Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP901503.RAemVMZhEcufp5-HQw64VOdGmQm5V45uqgoXAWt_AIlPI130_assertion> ?p ?o ?g. }
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- NP901503.RAemVMZhEcufp5-HQw64VOdGmQm5V45uqgoXAWt_AIlPI130_assertion type Assertion NP901503.RAemVMZhEcufp5-HQw64VOdGmQm5V45uqgoXAWt_AIlPI130_head.
- NP901503.RAemVMZhEcufp5-HQw64VOdGmQm5V45uqgoXAWt_AIlPI130_assertion description "[Sequence analysis of NDUFAF1 revealed compound heterozygous missense mutations (c.631C>T;p.Arg211Cys and c.733G>A;p.Gly245Arg) in one patient with fatal infantile HCM.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP901503.RAemVMZhEcufp5-HQw64VOdGmQm5V45uqgoXAWt_AIlPI130_provenance.
- NP901503.RAemVMZhEcufp5-HQw64VOdGmQm5V45uqgoXAWt_AIlPI130_assertion evidence source_evidence_literature NP901503.RAemVMZhEcufp5-HQw64VOdGmQm5V45uqgoXAWt_AIlPI130_provenance.
- NP901503.RAemVMZhEcufp5-HQw64VOdGmQm5V45uqgoXAWt_AIlPI130_assertion SIO_000772 21931170 NP901503.RAemVMZhEcufp5-HQw64VOdGmQm5V45uqgoXAWt_AIlPI130_provenance.
- NP901503.RAemVMZhEcufp5-HQw64VOdGmQm5V45uqgoXAWt_AIlPI130_assertion wasDerivedFrom befree-20150227 NP901503.RAemVMZhEcufp5-HQw64VOdGmQm5V45uqgoXAWt_AIlPI130_provenance.
- NP901503.RAemVMZhEcufp5-HQw64VOdGmQm5V45uqgoXAWt_AIlPI130_assertion wasGeneratedBy ECO_0000203 NP901503.RAemVMZhEcufp5-HQw64VOdGmQm5V45uqgoXAWt_AIlPI130_provenance.