Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP879246.RA8Z72CVljzKv2SZww6PmRmY_epFbezoj4zz2KoSRKGzM130_assertion> ?p ?o ?g. }
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- NP879246.RA8Z72CVljzKv2SZww6PmRmY_epFbezoj4zz2KoSRKGzM130_assertion type Assertion NP879246.RA8Z72CVljzKv2SZww6PmRmY_epFbezoj4zz2KoSRKGzM130_head.
- NP879246.RA8Z72CVljzKv2SZww6PmRmY_epFbezoj4zz2KoSRKGzM130_assertion description "[The proband in one had a homozygotic Gly238Trp missense mutation (GGG -> TGG) involving exon 4 and in the other carried compound heterozygotic changes Arg280His (CGC -> CAC) and Ala294Pro (GCC -> CCC) in exon 5.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP879246.RA8Z72CVljzKv2SZww6PmRmY_epFbezoj4zz2KoSRKGzM130_provenance.
- NP879246.RA8Z72CVljzKv2SZww6PmRmY_epFbezoj4zz2KoSRKGzM130_assertion evidence source_evidence_literature NP879246.RA8Z72CVljzKv2SZww6PmRmY_epFbezoj4zz2KoSRKGzM130_provenance.
- NP879246.RA8Z72CVljzKv2SZww6PmRmY_epFbezoj4zz2KoSRKGzM130_assertion SIO_000772 10617778 NP879246.RA8Z72CVljzKv2SZww6PmRmY_epFbezoj4zz2KoSRKGzM130_provenance.
- NP879246.RA8Z72CVljzKv2SZww6PmRmY_epFbezoj4zz2KoSRKGzM130_assertion wasDerivedFrom befree-20140225 NP879246.RA8Z72CVljzKv2SZww6PmRmY_epFbezoj4zz2KoSRKGzM130_provenance.
- NP879246.RA8Z72CVljzKv2SZww6PmRmY_epFbezoj4zz2KoSRKGzM130_assertion wasGeneratedBy ECO_0000203 NP879246.RA8Z72CVljzKv2SZww6PmRmY_epFbezoj4zz2KoSRKGzM130_provenance.