Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1259587.RAefvaWVIgLVSvbmLeDp6WGVOYCzzeh7ZO1BFMznDcsZ8130_assertion> ?p ?o ?g. }
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- NP1259587.RAefvaWVIgLVSvbmLeDp6WGVOYCzzeh7ZO1BFMznDcsZ8130_assertion type Assertion NP1259587.RAefvaWVIgLVSvbmLeDp6WGVOYCzzeh7ZO1BFMznDcsZ8130_head.
- NP1259587.RAefvaWVIgLVSvbmLeDp6WGVOYCzzeh7ZO1BFMznDcsZ8130_assertion description "[A novel missense variant, c.428G>A (p.G143E), in the gap junction protein-alpha 3 gene (GJA3) was identified in three patients of the family but unidentified in three family members without lens opacity and 100 normal controls.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1259587.RAefvaWVIgLVSvbmLeDp6WGVOYCzzeh7ZO1BFMznDcsZ8130_provenance.
- NP1259587.RAefvaWVIgLVSvbmLeDp6WGVOYCzzeh7ZO1BFMznDcsZ8130_assertion evidence source_evidence_literature NP1259587.RAefvaWVIgLVSvbmLeDp6WGVOYCzzeh7ZO1BFMznDcsZ8130_provenance.
- NP1259587.RAefvaWVIgLVSvbmLeDp6WGVOYCzzeh7ZO1BFMznDcsZ8130_assertion SIO_000772 25635993 NP1259587.RAefvaWVIgLVSvbmLeDp6WGVOYCzzeh7ZO1BFMznDcsZ8130_provenance.
- NP1259587.RAefvaWVIgLVSvbmLeDp6WGVOYCzzeh7ZO1BFMznDcsZ8130_assertion wasDerivedFrom befree-2016 NP1259587.RAefvaWVIgLVSvbmLeDp6WGVOYCzzeh7ZO1BFMznDcsZ8130_provenance.
- NP1259587.RAefvaWVIgLVSvbmLeDp6WGVOYCzzeh7ZO1BFMznDcsZ8130_assertion wasGeneratedBy ECO_0000203 NP1259587.RAefvaWVIgLVSvbmLeDp6WGVOYCzzeh7ZO1BFMznDcsZ8130_provenance.