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- NP522571.RA9AEP51bOxBe4uHj1QiqcGpHUp4jl2mHGBe-VT1I7lF8130_assertion type Assertion NP522571.RA9AEP51bOxBe4uHj1QiqcGpHUp4jl2mHGBe-VT1I7lF8130_head.
- NP522571.RA9AEP51bOxBe4uHj1QiqcGpHUp4jl2mHGBe-VT1I7lF8130_assertion description "[We identified two heterozygous KCNJ10 mutations (p.R18Q and p.V84M) in three children (two unrelated families) with seizures, ASD, and intellectual disability.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP522571.RA9AEP51bOxBe4uHj1QiqcGpHUp4jl2mHGBe-VT1I7lF8130_provenance.
- NP522571.RA9AEP51bOxBe4uHj1QiqcGpHUp4jl2mHGBe-VT1I7lF8130_assertion evidence source_evidence_literature NP522571.RA9AEP51bOxBe4uHj1QiqcGpHUp4jl2mHGBe-VT1I7lF8130_provenance.
- NP522571.RA9AEP51bOxBe4uHj1QiqcGpHUp4jl2mHGBe-VT1I7lF8130_assertion SIO_000772 21458570 NP522571.RA9AEP51bOxBe4uHj1QiqcGpHUp4jl2mHGBe-VT1I7lF8130_provenance.
- NP522571.RA9AEP51bOxBe4uHj1QiqcGpHUp4jl2mHGBe-VT1I7lF8130_assertion wasDerivedFrom befree-20150227 NP522571.RA9AEP51bOxBe4uHj1QiqcGpHUp4jl2mHGBe-VT1I7lF8130_provenance.
- NP522571.RA9AEP51bOxBe4uHj1QiqcGpHUp4jl2mHGBe-VT1I7lF8130_assertion wasGeneratedBy ECO_0000203 NP522571.RA9AEP51bOxBe4uHj1QiqcGpHUp4jl2mHGBe-VT1I7lF8130_provenance.