Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP420009.RA68F_td0aO8KB132pnFbztWDZi-U6e1nCoFgiCeo_89k130_assertion> ?p ?o ?g. }
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- NP420009.RA68F_td0aO8KB132pnFbztWDZi-U6e1nCoFgiCeo_89k130_assertion type Assertion NP420009.RA68F_td0aO8KB132pnFbztWDZi-U6e1nCoFgiCeo_89k130_head.
- NP420009.RA68F_td0aO8KB132pnFbztWDZi-U6e1nCoFgiCeo_89k130_assertion description "[We examined 12 Japanese patients with metaphyseal chondrodysplasia (MCD) for mutations in the ribonuclease mitochondrial RNA processing gene (RMRP), and identified four novel mutations in two patients with typical and atypical cartilage-hair hypoplasia (CHH), a form of MCD characterized by extra-skeletal manifestations including hypoplastic hair and defective immunity.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP420009.RA68F_td0aO8KB132pnFbztWDZi-U6e1nCoFgiCeo_89k130_provenance.
- NP420009.RA68F_td0aO8KB132pnFbztWDZi-U6e1nCoFgiCeo_89k130_assertion evidence source_evidence_literature NP420009.RA68F_td0aO8KB132pnFbztWDZi-U6e1nCoFgiCeo_89k130_provenance.
- NP420009.RA68F_td0aO8KB132pnFbztWDZi-U6e1nCoFgiCeo_89k130_assertion SIO_000772 14608646 NP420009.RA68F_td0aO8KB132pnFbztWDZi-U6e1nCoFgiCeo_89k130_provenance.
- NP420009.RA68F_td0aO8KB132pnFbztWDZi-U6e1nCoFgiCeo_89k130_assertion wasDerivedFrom befree-2016 NP420009.RA68F_td0aO8KB132pnFbztWDZi-U6e1nCoFgiCeo_89k130_provenance.
- NP420009.RA68F_td0aO8KB132pnFbztWDZi-U6e1nCoFgiCeo_89k130_assertion wasGeneratedBy ECO_0000203 NP420009.RA68F_td0aO8KB132pnFbztWDZi-U6e1nCoFgiCeo_89k130_provenance.