Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP195313.RABFOCLDW-kqJIwSXkoYbU9I6BgKGK5KLZcWioEZ6hbPw130_assertion> ?p ?o ?g. }
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- NP195313.RABFOCLDW-kqJIwSXkoYbU9I6BgKGK5KLZcWioEZ6hbPw130_assertion type Assertion NP195313.RABFOCLDW-kqJIwSXkoYbU9I6BgKGK5KLZcWioEZ6hbPw130_head.
- NP195313.RABFOCLDW-kqJIwSXkoYbU9I6BgKGK5KLZcWioEZ6hbPw130_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." NP195313.RABFOCLDW-kqJIwSXkoYbU9I6BgKGK5KLZcWioEZ6hbPw130_provenance.
- NP195313.RABFOCLDW-kqJIwSXkoYbU9I6BgKGK5KLZcWioEZ6hbPw130_assertion evidence source_evidence_literature NP195313.RABFOCLDW-kqJIwSXkoYbU9I6BgKGK5KLZcWioEZ6hbPw130_provenance.
- NP195313.RABFOCLDW-kqJIwSXkoYbU9I6BgKGK5KLZcWioEZ6hbPw130_assertion SIO_000772 17888164 NP195313.RABFOCLDW-kqJIwSXkoYbU9I6BgKGK5KLZcWioEZ6hbPw130_provenance.
- NP195313.RABFOCLDW-kqJIwSXkoYbU9I6BgKGK5KLZcWioEZ6hbPw130_assertion wasDerivedFrom befree-20140225 NP195313.RABFOCLDW-kqJIwSXkoYbU9I6BgKGK5KLZcWioEZ6hbPw130_provenance.
- NP195313.RABFOCLDW-kqJIwSXkoYbU9I6BgKGK5KLZcWioEZ6hbPw130_assertion wasGeneratedBy ECO_0000203 NP195313.RABFOCLDW-kqJIwSXkoYbU9I6BgKGK5KLZcWioEZ6hbPw130_provenance.