Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP951244.RA0veQ1W2L5auUb3qhbxsNCTpKxCSSVtzYpLYG5Xwc-jQ130_assertion> ?p ?o ?g. }
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- NP951244.RA0veQ1W2L5auUb3qhbxsNCTpKxCSSVtzYpLYG5Xwc-jQ130_assertion type Assertion NP951244.RA0veQ1W2L5auUb3qhbxsNCTpKxCSSVtzYpLYG5Xwc-jQ130_head.
- NP951244.RA0veQ1W2L5auUb3qhbxsNCTpKxCSSVtzYpLYG5Xwc-jQ130_assertion description "[Heterozygous missense mutations in PITX3 have been reported in patients with autosomal dominant congenital cataract and anterior segment (ocular) mesenchymal dysgenesis (ASMD) whereas homozygous missense mutations have been found in patients with microphthalmia and neurological impairment.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP951244.RA0veQ1W2L5auUb3qhbxsNCTpKxCSSVtzYpLYG5Xwc-jQ130_provenance.
- NP951244.RA0veQ1W2L5auUb3qhbxsNCTpKxCSSVtzYpLYG5Xwc-jQ130_assertion evidence source_evidence_literature NP951244.RA0veQ1W2L5auUb3qhbxsNCTpKxCSSVtzYpLYG5Xwc-jQ130_provenance.
- NP951244.RA0veQ1W2L5auUb3qhbxsNCTpKxCSSVtzYpLYG5Xwc-jQ130_assertion SIO_000772 22223473 NP951244.RA0veQ1W2L5auUb3qhbxsNCTpKxCSSVtzYpLYG5Xwc-jQ130_provenance.
- NP951244.RA0veQ1W2L5auUb3qhbxsNCTpKxCSSVtzYpLYG5Xwc-jQ130_assertion wasDerivedFrom befree-2016 NP951244.RA0veQ1W2L5auUb3qhbxsNCTpKxCSSVtzYpLYG5Xwc-jQ130_provenance.
- NP951244.RA0veQ1W2L5auUb3qhbxsNCTpKxCSSVtzYpLYG5Xwc-jQ130_assertion wasGeneratedBy ECO_0000203 NP951244.RA0veQ1W2L5auUb3qhbxsNCTpKxCSSVtzYpLYG5Xwc-jQ130_provenance.