Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP626537.RAXn-eWPmOOcGKtYDoFWAG-CQLYiX-JqKTs09p9agrjJo130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP626537.RAXn-eWPmOOcGKtYDoFWAG-CQLYiX-JqKTs09p9agrjJo130_assertion type Assertion NP626537.RAXn-eWPmOOcGKtYDoFWAG-CQLYiX-JqKTs09p9agrjJo130_head.
- NP626537.RAXn-eWPmOOcGKtYDoFWAG-CQLYiX-JqKTs09p9agrjJo130_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." NP626537.RAXn-eWPmOOcGKtYDoFWAG-CQLYiX-JqKTs09p9agrjJo130_provenance.
- NP626537.RAXn-eWPmOOcGKtYDoFWAG-CQLYiX-JqKTs09p9agrjJo130_assertion evidence source_evidence_literature NP626537.RAXn-eWPmOOcGKtYDoFWAG-CQLYiX-JqKTs09p9agrjJo130_provenance.
- NP626537.RAXn-eWPmOOcGKtYDoFWAG-CQLYiX-JqKTs09p9agrjJo130_assertion SIO_000772 22223473 NP626537.RAXn-eWPmOOcGKtYDoFWAG-CQLYiX-JqKTs09p9agrjJo130_provenance.
- NP626537.RAXn-eWPmOOcGKtYDoFWAG-CQLYiX-JqKTs09p9agrjJo130_assertion wasDerivedFrom befree-20150227 NP626537.RAXn-eWPmOOcGKtYDoFWAG-CQLYiX-JqKTs09p9agrjJo130_provenance.
- NP626537.RAXn-eWPmOOcGKtYDoFWAG-CQLYiX-JqKTs09p9agrjJo130_assertion wasGeneratedBy ECO_0000203 NP626537.RAXn-eWPmOOcGKtYDoFWAG-CQLYiX-JqKTs09p9agrjJo130_provenance.