Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP17238.RAsgzG2Vdu_0QWdpO6gsxI8KCYTix0wTpHPIjPf38MVGY130_assertion> ?p ?o ?g. }
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- NP17238.RAsgzG2Vdu_0QWdpO6gsxI8KCYTix0wTpHPIjPf38MVGY130_assertion type Assertion NP17238.RAsgzG2Vdu_0QWdpO6gsxI8KCYTix0wTpHPIjPf38MVGY130_head.
- NP17238.RAsgzG2Vdu_0QWdpO6gsxI8KCYTix0wTpHPIjPf38MVGY130_assertion description "[Heterozygous and homozygous mutations in PITX3 in a large Lebanese family with posterior polar cataracts and neurodevelopmental abnormalities.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP17238.RAsgzG2Vdu_0QWdpO6gsxI8KCYTix0wTpHPIjPf38MVGY130_provenance.
- NP17238.RAsgzG2Vdu_0QWdpO6gsxI8KCYTix0wTpHPIjPf38MVGY130_assertion evidence source_evidence_curated NP17238.RAsgzG2Vdu_0QWdpO6gsxI8KCYTix0wTpHPIjPf38MVGY130_provenance.
- NP17238.RAsgzG2Vdu_0QWdpO6gsxI8KCYTix0wTpHPIjPf38MVGY130_assertion SIO_000772 16565358 NP17238.RAsgzG2Vdu_0QWdpO6gsxI8KCYTix0wTpHPIjPf38MVGY130_provenance.
- NP17238.RAsgzG2Vdu_0QWdpO6gsxI8KCYTix0wTpHPIjPf38MVGY130_assertion wasDerivedFrom ctd_human-2016 NP17238.RAsgzG2Vdu_0QWdpO6gsxI8KCYTix0wTpHPIjPf38MVGY130_provenance.
- NP17238.RAsgzG2Vdu_0QWdpO6gsxI8KCYTix0wTpHPIjPf38MVGY130_assertion wasGeneratedBy ECO_0000218 NP17238.RAsgzG2Vdu_0QWdpO6gsxI8KCYTix0wTpHPIjPf38MVGY130_provenance.