Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP949002.RANU0MQOR8CesoOLBFqrtMPNhas0P2bJc-oIGEl6_rPwk130_assertion> ?p ?o ?g. }
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- NP949002.RANU0MQOR8CesoOLBFqrtMPNhas0P2bJc-oIGEl6_rPwk130_assertion type Assertion NP949002.RANU0MQOR8CesoOLBFqrtMPNhas0P2bJc-oIGEl6_rPwk130_head.
- NP949002.RANU0MQOR8CesoOLBFqrtMPNhas0P2bJc-oIGEl6_rPwk130_assertion description "[Odonto-onycho-dermal dysplasia (OODD), a rare autosomal-recessive inherited form of ectodermal dysplasia including severe oligodontia, nail dystrophy, palmoplantar hyperkeratosis, and hyperhidrosis, was recently shown to be caused by a homozygous nonsense WNT10A mutation in three consanguineous Lebanese families.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP949002.RANU0MQOR8CesoOLBFqrtMPNhas0P2bJc-oIGEl6_rPwk130_provenance.
- NP949002.RANU0MQOR8CesoOLBFqrtMPNhas0P2bJc-oIGEl6_rPwk130_assertion evidence source_evidence_literature NP949002.RANU0MQOR8CesoOLBFqrtMPNhas0P2bJc-oIGEl6_rPwk130_provenance.
- NP949002.RANU0MQOR8CesoOLBFqrtMPNhas0P2bJc-oIGEl6_rPwk130_assertion SIO_000772 19559398 NP949002.RANU0MQOR8CesoOLBFqrtMPNhas0P2bJc-oIGEl6_rPwk130_provenance.
- NP949002.RANU0MQOR8CesoOLBFqrtMPNhas0P2bJc-oIGEl6_rPwk130_assertion wasDerivedFrom befree-20150227 NP949002.RANU0MQOR8CesoOLBFqrtMPNhas0P2bJc-oIGEl6_rPwk130_provenance.
- NP949002.RANU0MQOR8CesoOLBFqrtMPNhas0P2bJc-oIGEl6_rPwk130_assertion wasGeneratedBy ECO_0000203 NP949002.RANU0MQOR8CesoOLBFqrtMPNhas0P2bJc-oIGEl6_rPwk130_provenance.