Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP420007.RAk_Dq13QSMCNc4QCFky4e5HiXXHa4T-7P5Bq5f9p2cCE130_assertion> ?p ?o ?g. }
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- NP420007.RAk_Dq13QSMCNc4QCFky4e5HiXXHa4T-7P5Bq5f9p2cCE130_assertion type Assertion NP420007.RAk_Dq13QSMCNc4QCFky4e5HiXXHa4T-7P5Bq5f9p2cCE130_head.
- NP420007.RAk_Dq13QSMCNc4QCFky4e5HiXXHa4T-7P5Bq5f9p2cCE130_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." NP420007.RAk_Dq13QSMCNc4QCFky4e5HiXXHa4T-7P5Bq5f9p2cCE130_provenance.
- NP420007.RAk_Dq13QSMCNc4QCFky4e5HiXXHa4T-7P5Bq5f9p2cCE130_assertion evidence source_evidence_literature NP420007.RAk_Dq13QSMCNc4QCFky4e5HiXXHa4T-7P5Bq5f9p2cCE130_provenance.
- NP420007.RAk_Dq13QSMCNc4QCFky4e5HiXXHa4T-7P5Bq5f9p2cCE130_assertion SIO_000772 14608646 NP420007.RAk_Dq13QSMCNc4QCFky4e5HiXXHa4T-7P5Bq5f9p2cCE130_provenance.
- NP420007.RAk_Dq13QSMCNc4QCFky4e5HiXXHa4T-7P5Bq5f9p2cCE130_assertion wasDerivedFrom befree-2016 NP420007.RAk_Dq13QSMCNc4QCFky4e5HiXXHa4T-7P5Bq5f9p2cCE130_provenance.
- NP420007.RAk_Dq13QSMCNc4QCFky4e5HiXXHa4T-7P5Bq5f9p2cCE130_assertion wasGeneratedBy ECO_0000203 NP420007.RAk_Dq13QSMCNc4QCFky4e5HiXXHa4T-7P5Bq5f9p2cCE130_provenance.