Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1266405.RA3lLx29k50XCvkFF-_eqv9jQfkGorffWJebB56LVQSG4130_assertion> ?p ?o ?g. }
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- NP1266405.RA3lLx29k50XCvkFF-_eqv9jQfkGorffWJebB56LVQSG4130_assertion type Assertion NP1266405.RA3lLx29k50XCvkFF-_eqv9jQfkGorffWJebB56LVQSG4130_head.
- NP1266405.RA3lLx29k50XCvkFF-_eqv9jQfkGorffWJebB56LVQSG4130_assertion description "[Whole exome sequencing from two cousins affected with dominant coloboma with microcornea, cataracts, and skeletal dysplasia identified a novel heterozygous allele in MAB21L2, c.151 C>G, p.(Arg51Gly); the mutation was present in all five family members with the disease and appeared de novo in the first affected generation of the three-generational pedigree.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1266405.RA3lLx29k50XCvkFF-_eqv9jQfkGorffWJebB56LVQSG4130_provenance.
- NP1266405.RA3lLx29k50XCvkFF-_eqv9jQfkGorffWJebB56LVQSG4130_assertion evidence source_evidence_literature NP1266405.RA3lLx29k50XCvkFF-_eqv9jQfkGorffWJebB56LVQSG4130_provenance.
- NP1266405.RA3lLx29k50XCvkFF-_eqv9jQfkGorffWJebB56LVQSG4130_assertion SIO_000772 25719200 NP1266405.RA3lLx29k50XCvkFF-_eqv9jQfkGorffWJebB56LVQSG4130_provenance.
- NP1266405.RA3lLx29k50XCvkFF-_eqv9jQfkGorffWJebB56LVQSG4130_assertion wasDerivedFrom befree-2016 NP1266405.RA3lLx29k50XCvkFF-_eqv9jQfkGorffWJebB56LVQSG4130_provenance.
- NP1266405.RA3lLx29k50XCvkFF-_eqv9jQfkGorffWJebB56LVQSG4130_assertion wasGeneratedBy ECO_0000203 NP1266405.RA3lLx29k50XCvkFF-_eqv9jQfkGorffWJebB56LVQSG4130_provenance.