Matches in Nanopublications for { ?s ?p "[We used whole-exome sequencing of five patients with MIC-CAP syndrome and identified recessive mutations in STAMBP, a gene encoding the deubiquitinating (DUB) isopeptidase STAMBP (STAM-binding protein, also known as AMSH, associated molecule with the SH3 domain of STAM) that has a key role in cell surface receptor-mediated endocytosis and sorting.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ?g. }
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- NP413187.RAmNs7-GnBHDXObm79tWbLmyORNpG3I8mRf0HPv3PmNwg130_assertion description "[We used whole-exome sequencing of five patients with MIC-CAP syndrome and identified recessive mutations in STAMBP, a gene encoding the deubiquitinating (DUB) isopeptidase STAMBP (STAM-binding protein, also known as AMSH, associated molecule with the SH3 domain of STAM) that has a key role in cell surface receptor-mediated endocytosis and sorting.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP413187.RAmNs7-GnBHDXObm79tWbLmyORNpG3I8mRf0HPv3PmNwg130_provenance.
- NP336966.RAYCQnRoY157s0ZV-XCCXl1zclJkXmaLBeCmoZblYC5VA130_assertion description "[We used whole-exome sequencing of five patients with MIC-CAP syndrome and identified recessive mutations in STAMBP, a gene encoding the deubiquitinating (DUB) isopeptidase STAMBP (STAM-binding protein, also known as AMSH, associated molecule with the SH3 domain of STAM) that has a key role in cell surface receptor-mediated endocytosis and sorting.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP336966.RAYCQnRoY157s0ZV-XCCXl1zclJkXmaLBeCmoZblYC5VA130_provenance.
- NP1065089.RAA8vWGpNyEEBZNLgUK_X_u6g7FbdKTM_rpZt8WFCRijU130_assertion description "[We used whole-exome sequencing of five patients with MIC-CAP syndrome and identified recessive mutations in STAMBP, a gene encoding the deubiquitinating (DUB) isopeptidase STAMBP (STAM-binding protein, also known as AMSH, associated molecule with the SH3 domain of STAM) that has a key role in cell surface receptor-mediated endocytosis and sorting.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1065089.RAA8vWGpNyEEBZNLgUK_X_u6g7FbdKTM_rpZt8WFCRijU130_provenance.
- NP1065087.RAoOd6qDBi0Ono5kM84xtuOQVG0QeO4uRnWJntJBaO0xk130_assertion description "[We used whole-exome sequencing of five patients with MIC-CAP syndrome and identified recessive mutations in STAMBP, a gene encoding the deubiquitinating (DUB) isopeptidase STAMBP (STAM-binding protein, also known as AMSH, associated molecule with the SH3 domain of STAM) that has a key role in cell surface receptor-mediated endocytosis and sorting.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1065087.RAoOd6qDBi0Ono5kM84xtuOQVG0QeO4uRnWJntJBaO0xk130_provenance.
- NP928613.RAJgzkkDMDZqZ1ZYrlfVc5SKZWeamp1wVNR-Sxjeikxps130_assertion description "[We used whole-exome sequencing of five patients with MIC-CAP syndrome and identified recessive mutations in STAMBP, a gene encoding the deubiquitinating (DUB) isopeptidase STAMBP (STAM-binding protein, also known as AMSH, associated molecule with the SH3 domain of STAM) that has a key role in cell surface receptor-mediated endocytosis and sorting.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP928613.RAJgzkkDMDZqZ1ZYrlfVc5SKZWeamp1wVNR-Sxjeikxps130_provenance.
- NP848870.RA_h9rpwzBznHoMcmCm2cMo9QcegBHFLKOPKab6sNyNec130_assertion description "[We used whole-exome sequencing of five patients with MIC-CAP syndrome and identified recessive mutations in STAMBP, a gene encoding the deubiquitinating (DUB) isopeptidase STAMBP (STAM-binding protein, also known as AMSH, associated molecule with the SH3 domain of STAM) that has a key role in cell surface receptor-mediated endocytosis and sorting.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP848870.RA_h9rpwzBznHoMcmCm2cMo9QcegBHFLKOPKab6sNyNec130_provenance.