Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP631285.RAkhEjKTgWtIJfO9fZVP_3H0iJD4tLX_Y2lfWAr22CJLI130_assertion> ?p ?o ?g. }
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- NP631285.RAkhEjKTgWtIJfO9fZVP_3H0iJD4tLX_Y2lfWAr22CJLI130_assertion type Assertion NP631285.RAkhEjKTgWtIJfO9fZVP_3H0iJD4tLX_Y2lfWAr22CJLI130_head.
- NP631285.RAkhEjKTgWtIJfO9fZVP_3H0iJD4tLX_Y2lfWAr22CJLI130_assertion description "[Human patients with point mutations in PITX3 demonstrate congenital cataracts along with anterior segment defects in some cases when one allele is affected and microphthalmia with brain malformations when both copies are mutated.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP631285.RAkhEjKTgWtIJfO9fZVP_3H0iJD4tLX_Y2lfWAr22CJLI130_provenance.
- NP631285.RAkhEjKTgWtIJfO9fZVP_3H0iJD4tLX_Y2lfWAr22CJLI130_assertion evidence source_evidence_literature NP631285.RAkhEjKTgWtIJfO9fZVP_3H0iJD4tLX_Y2lfWAr22CJLI130_provenance.
- NP631285.RAkhEjKTgWtIJfO9fZVP_3H0iJD4tLX_Y2lfWAr22CJLI130_assertion SIO_000772 17888164 NP631285.RAkhEjKTgWtIJfO9fZVP_3H0iJD4tLX_Y2lfWAr22CJLI130_provenance.
- NP631285.RAkhEjKTgWtIJfO9fZVP_3H0iJD4tLX_Y2lfWAr22CJLI130_assertion wasDerivedFrom befree-2016 NP631285.RAkhEjKTgWtIJfO9fZVP_3H0iJD4tLX_Y2lfWAr22CJLI130_provenance.
- NP631285.RAkhEjKTgWtIJfO9fZVP_3H0iJD4tLX_Y2lfWAr22CJLI130_assertion wasGeneratedBy ECO_0000203 NP631285.RAkhEjKTgWtIJfO9fZVP_3H0iJD4tLX_Y2lfWAr22CJLI130_provenance.