Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP7105.RAk8IWM9RLP81e6zsMDUJhi-W-WyBheEUzLYsjC-C-efM130_assertion> ?p ?o ?g. }
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- NP7105.RAk8IWM9RLP81e6zsMDUJhi-W-WyBheEUzLYsjC-C-efM130_assertion type Assertion NP7105.RAk8IWM9RLP81e6zsMDUJhi-W-WyBheEUzLYsjC-C-efM130_head.
- NP7105.RAk8IWM9RLP81e6zsMDUJhi-W-WyBheEUzLYsjC-C-efM130_assertion description "[A novel homozygous Arg222Trp missense mutation in WNT7A in two sisters with severe Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7105.RAk8IWM9RLP81e6zsMDUJhi-W-WyBheEUzLYsjC-C-efM130_provenance.
- NP7105.RAk8IWM9RLP81e6zsMDUJhi-W-WyBheEUzLYsjC-C-efM130_assertion evidence source_evidence_curated NP7105.RAk8IWM9RLP81e6zsMDUJhi-W-WyBheEUzLYsjC-C-efM130_provenance.
- NP7105.RAk8IWM9RLP81e6zsMDUJhi-W-WyBheEUzLYsjC-C-efM130_assertion SIO_000772 20949531 NP7105.RAk8IWM9RLP81e6zsMDUJhi-W-WyBheEUzLYsjC-C-efM130_provenance.
- NP7105.RAk8IWM9RLP81e6zsMDUJhi-W-WyBheEUzLYsjC-C-efM130_assertion wasDerivedFrom uniprot-20130724 NP7105.RAk8IWM9RLP81e6zsMDUJhi-W-WyBheEUzLYsjC-C-efM130_provenance.
- NP7105.RAk8IWM9RLP81e6zsMDUJhi-W-WyBheEUzLYsjC-C-efM130_assertion wasGeneratedBy ECO_0000218 NP7105.RAk8IWM9RLP81e6zsMDUJhi-W-WyBheEUzLYsjC-C-efM130_provenance.