Matches in Nanopublications for { ?s ?p "[Dominant mutations in the receptor calcium channel gene TRPV4 have been associated with a family of skeletal dysplasias (metatropic dysplasia, pseudo-Morquio type 2, spondylometaphyseal dysplasia, Kozlowski type, brachyolmia, and familial digital arthropathy) as well as with dominantly inherited neuropathies (hereditary motor and sensory neuropathy 2C, scapuloperoneal spinal muscular atrophy, and congenital distal spinal muscular atrophy).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ?g. }
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- NP364018.RAjIUIskg41QF_i8kjAVSNpx_xTStzEnU6CVn3631--jc130_assertion description "[Dominant mutations in the receptor calcium channel gene TRPV4 have been associated with a family of skeletal dysplasias (metatropic dysplasia, pseudo-Morquio type 2, spondylometaphyseal dysplasia, Kozlowski type, brachyolmia, and familial digital arthropathy) as well as with dominantly inherited neuropathies (hereditary motor and sensory neuropathy 2C, scapuloperoneal spinal muscular atrophy, and congenital distal spinal muscular atrophy).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP364018.RAjIUIskg41QF_i8kjAVSNpx_xTStzEnU6CVn3631--jc130_provenance.
- NP935137.RAWBjqV3fNCWVBfuSc006D9fGEiE1nXwujGsfRuUS8mSk130_assertion description "[Dominant mutations in the receptor calcium channel gene TRPV4 have been associated with a family of skeletal dysplasias (metatropic dysplasia, pseudo-Morquio type 2, spondylometaphyseal dysplasia, Kozlowski type, brachyolmia, and familial digital arthropathy) as well as with dominantly inherited neuropathies (hereditary motor and sensory neuropathy 2C, scapuloperoneal spinal muscular atrophy, and congenital distal spinal muscular atrophy).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP935137.RAWBjqV3fNCWVBfuSc006D9fGEiE1nXwujGsfRuUS8mSk130_provenance.
- NP935170.RAVTz0TfKXH1YsR_sJReuc-alWKt4-FGM6mOEaWgwdmMc130_assertion description "[Dominant mutations in the receptor calcium channel gene TRPV4 have been associated with a family of skeletal dysplasias (metatropic dysplasia, pseudo-Morquio type 2, spondylometaphyseal dysplasia, Kozlowski type, brachyolmia, and familial digital arthropathy) as well as with dominantly inherited neuropathies (hereditary motor and sensory neuropathy 2C, scapuloperoneal spinal muscular atrophy, and congenital distal spinal muscular atrophy).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP935170.RAVTz0TfKXH1YsR_sJReuc-alWKt4-FGM6mOEaWgwdmMc130_provenance.
- NP651689.RAK6OU7JX30i3ED1KO-dnfcJrTSG7EjlUzt-vg-UdwTlY130_assertion description "[Dominant mutations in the receptor calcium channel gene TRPV4 have been associated with a family of skeletal dysplasias (metatropic dysplasia, pseudo-Morquio type 2, spondylometaphyseal dysplasia, Kozlowski type, brachyolmia, and familial digital arthropathy) as well as with dominantly inherited neuropathies (hereditary motor and sensory neuropathy 2C, scapuloperoneal spinal muscular atrophy, and congenital distal spinal muscular atrophy).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP651689.RAK6OU7JX30i3ED1KO-dnfcJrTSG7EjlUzt-vg-UdwTlY130_provenance.
- NP621276.RAEEadf1PWJfmPFpo9RGpskNu2pnzOYGxdVQtVvU5thYE130_assertion description "[Dominant mutations in the receptor calcium channel gene TRPV4 have been associated with a family of skeletal dysplasias (metatropic dysplasia, pseudo-Morquio type 2, spondylometaphyseal dysplasia, Kozlowski type, brachyolmia, and familial digital arthropathy) as well as with dominantly inherited neuropathies (hereditary motor and sensory neuropathy 2C, scapuloperoneal spinal muscular atrophy, and congenital distal spinal muscular atrophy).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP621276.RAEEadf1PWJfmPFpo9RGpskNu2pnzOYGxdVQtVvU5thYE130_provenance.
- assertion description "[Dominant mutations in the receptor calcium channel gene TRPV4 have been associated with a family of skeletal dysplasias (metatropic dysplasia, pseudo-Morquio type 2, spondylometaphyseal dysplasia, Kozlowski type, brachyolmia, and familial digital arthropathy) as well as with dominantly inherited neuropathies (hereditary motor and sensory neuropathy 2C, scapuloperoneal spinal muscular atrophy, and congenital distal spinal muscular atrophy).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- NP927884.RATeKpt2wS2TiZMH6Zpo4WDqdh9pTaeETpFnRWXg7GovQ130_assertion description "[Dominant mutations in the receptor calcium channel gene TRPV4 have been associated with a family of skeletal dysplasias (metatropic dysplasia, pseudo-Morquio type 2, spondylometaphyseal dysplasia, Kozlowski type, brachyolmia, and familial digital arthropathy) as well as with dominantly inherited neuropathies (hereditary motor and sensory neuropathy 2C, scapuloperoneal spinal muscular atrophy, and congenital distal spinal muscular atrophy).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP927884.RATeKpt2wS2TiZMH6Zpo4WDqdh9pTaeETpFnRWXg7GovQ130_provenance.
- NP927885.RAAQuITfyhi7nKyF50fKhaTW4-6fUu5UnikbP_rCIywdU130_assertion description "[Dominant mutations in the receptor calcium channel gene TRPV4 have been associated with a family of skeletal dysplasias (metatropic dysplasia, pseudo-Morquio type 2, spondylometaphyseal dysplasia, Kozlowski type, brachyolmia, and familial digital arthropathy) as well as with dominantly inherited neuropathies (hereditary motor and sensory neuropathy 2C, scapuloperoneal spinal muscular atrophy, and congenital distal spinal muscular atrophy).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP927885.RAAQuITfyhi7nKyF50fKhaTW4-6fUu5UnikbP_rCIywdU130_provenance.
- NP808691.RAOLJTC9tL_ppL5hCwoBV27bsKMDMiDmNRcXmEVFiZ2xU130_assertion description "[Dominant mutations in the receptor calcium channel gene TRPV4 have been associated with a family of skeletal dysplasias (metatropic dysplasia, pseudo-Morquio type 2, spondylometaphyseal dysplasia, Kozlowski type, brachyolmia, and familial digital arthropathy) as well as with dominantly inherited neuropathies (hereditary motor and sensory neuropathy 2C, scapuloperoneal spinal muscular atrophy, and congenital distal spinal muscular atrophy).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP808691.RAOLJTC9tL_ppL5hCwoBV27bsKMDMiDmNRcXmEVFiZ2xU130_provenance.
- NP927883.RAlZQLf7O0FyRVpuvd5benpCruf9FJ7u0s3-BTac96F-o130_assertion description "[Dominant mutations in the receptor calcium channel gene TRPV4 have been associated with a family of skeletal dysplasias (metatropic dysplasia, pseudo-Morquio type 2, spondylometaphyseal dysplasia, Kozlowski type, brachyolmia, and familial digital arthropathy) as well as with dominantly inherited neuropathies (hereditary motor and sensory neuropathy 2C, scapuloperoneal spinal muscular atrophy, and congenital distal spinal muscular atrophy).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP927883.RAlZQLf7O0FyRVpuvd5benpCruf9FJ7u0s3-BTac96F-o130_provenance.
- NP927886.RArId-C5y79qq6XXnlzY7FUpeM2So578mgxIGPzDvLAPM130_assertion description "[Dominant mutations in the receptor calcium channel gene TRPV4 have been associated with a family of skeletal dysplasias (metatropic dysplasia, pseudo-Morquio type 2, spondylometaphyseal dysplasia, Kozlowski type, brachyolmia, and familial digital arthropathy) as well as with dominantly inherited neuropathies (hereditary motor and sensory neuropathy 2C, scapuloperoneal spinal muscular atrophy, and congenital distal spinal muscular atrophy).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP927886.RArId-C5y79qq6XXnlzY7FUpeM2So578mgxIGPzDvLAPM130_provenance.
- NP935090.RAOy34Ta-8CBcygh5-66RIi5IzgbgOpSjkKaVcKz11dGk130_assertion description "[Dominant mutations in the receptor calcium channel gene TRPV4 have been associated with a family of skeletal dysplasias (metatropic dysplasia, pseudo-Morquio type 2, spondylometaphyseal dysplasia, Kozlowski type, brachyolmia, and familial digital arthropathy) as well as with dominantly inherited neuropathies (hereditary motor and sensory neuropathy 2C, scapuloperoneal spinal muscular atrophy, and congenital distal spinal muscular atrophy).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP935090.RAOy34Ta-8CBcygh5-66RIi5IzgbgOpSjkKaVcKz11dGk130_provenance.
- NP935107.RAOSEMNsN4lCh5iAvX9YRDU3x_1nFU4Jr7q6wvxqmEkdM130_assertion description "[Dominant mutations in the receptor calcium channel gene TRPV4 have been associated with a family of skeletal dysplasias (metatropic dysplasia, pseudo-Morquio type 2, spondylometaphyseal dysplasia, Kozlowski type, brachyolmia, and familial digital arthropathy) as well as with dominantly inherited neuropathies (hereditary motor and sensory neuropathy 2C, scapuloperoneal spinal muscular atrophy, and congenital distal spinal muscular atrophy).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP935107.RAOSEMNsN4lCh5iAvX9YRDU3x_1nFU4Jr7q6wvxqmEkdM130_provenance.
- NP935147.RA9Y8ROK5xaCZ7bRJvx9pc0srjJgQtHARZyZrsMq_Hly4130_assertion description "[Dominant mutations in the receptor calcium channel gene TRPV4 have been associated with a family of skeletal dysplasias (metatropic dysplasia, pseudo-Morquio type 2, spondylometaphyseal dysplasia, Kozlowski type, brachyolmia, and familial digital arthropathy) as well as with dominantly inherited neuropathies (hereditary motor and sensory neuropathy 2C, scapuloperoneal spinal muscular atrophy, and congenital distal spinal muscular atrophy).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP935147.RA9Y8ROK5xaCZ7bRJvx9pc0srjJgQtHARZyZrsMq_Hly4130_provenance.
- NP927888.RAyKziuD_746Vh9lJ4PTnjHN6E4xl--sSinf8-2ZC10to130_assertion description "[Dominant mutations in the receptor calcium channel gene TRPV4 have been associated with a family of skeletal dysplasias (metatropic dysplasia, pseudo-Morquio type 2, spondylometaphyseal dysplasia, Kozlowski type, brachyolmia, and familial digital arthropathy) as well as with dominantly inherited neuropathies (hereditary motor and sensory neuropathy 2C, scapuloperoneal spinal muscular atrophy, and congenital distal spinal muscular atrophy).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP927888.RAyKziuD_746Vh9lJ4PTnjHN6E4xl--sSinf8-2ZC10to130_provenance.