Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP631284.RAmQuwvqDAqqFGezr4YZCTnGFC1pQx8GKxABGAZ7KmS9Q130_assertion> ?p ?o ?g. }
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- NP631284.RAmQuwvqDAqqFGezr4YZCTnGFC1pQx8GKxABGAZ7KmS9Q130_assertion type Assertion NP631284.RAmQuwvqDAqqFGezr4YZCTnGFC1pQx8GKxABGAZ7KmS9Q130_head.
- NP631284.RAmQuwvqDAqqFGezr4YZCTnGFC1pQx8GKxABGAZ7KmS9Q130_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." NP631284.RAmQuwvqDAqqFGezr4YZCTnGFC1pQx8GKxABGAZ7KmS9Q130_provenance.
- NP631284.RAmQuwvqDAqqFGezr4YZCTnGFC1pQx8GKxABGAZ7KmS9Q130_assertion evidence source_evidence_literature NP631284.RAmQuwvqDAqqFGezr4YZCTnGFC1pQx8GKxABGAZ7KmS9Q130_provenance.
- NP631284.RAmQuwvqDAqqFGezr4YZCTnGFC1pQx8GKxABGAZ7KmS9Q130_assertion SIO_000772 17888164 NP631284.RAmQuwvqDAqqFGezr4YZCTnGFC1pQx8GKxABGAZ7KmS9Q130_provenance.
- NP631284.RAmQuwvqDAqqFGezr4YZCTnGFC1pQx8GKxABGAZ7KmS9Q130_assertion wasDerivedFrom befree-2016 NP631284.RAmQuwvqDAqqFGezr4YZCTnGFC1pQx8GKxABGAZ7KmS9Q130_provenance.
- NP631284.RAmQuwvqDAqqFGezr4YZCTnGFC1pQx8GKxABGAZ7KmS9Q130_assertion wasGeneratedBy ECO_0000203 NP631284.RAmQuwvqDAqqFGezr4YZCTnGFC1pQx8GKxABGAZ7KmS9Q130_provenance.