Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP135364.RAKwoir67VT1EqcXBjCwooxn_3dBWP3NnaLUV0hif77RM130_assertion> ?p ?o ?g. }
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- NP135364.RAKwoir67VT1EqcXBjCwooxn_3dBWP3NnaLUV0hif77RM130_assertion type Assertion NP135364.RAKwoir67VT1EqcXBjCwooxn_3dBWP3NnaLUV0hif77RM130_head.
- NP135364.RAKwoir67VT1EqcXBjCwooxn_3dBWP3NnaLUV0hif77RM130_assertion description "[The G219fs mutation was found in multiple families affected with congenital cataracts along with anterior segment malformations/S13N mutant showed only minor alteration and may represent a rare polymorphism in the PITX3 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135364.RAKwoir67VT1EqcXBjCwooxn_3dBWP3NnaLUV0hif77RM130_provenance.
- NP135364.RAKwoir67VT1EqcXBjCwooxn_3dBWP3NnaLUV0hif77RM130_assertion evidence source_evidence_literature NP135364.RAKwoir67VT1EqcXBjCwooxn_3dBWP3NnaLUV0hif77RM130_provenance.
- NP135364.RAKwoir67VT1EqcXBjCwooxn_3dBWP3NnaLUV0hif77RM130_assertion SIO_000772 17888164 NP135364.RAKwoir67VT1EqcXBjCwooxn_3dBWP3NnaLUV0hif77RM130_provenance.
- NP135364.RAKwoir67VT1EqcXBjCwooxn_3dBWP3NnaLUV0hif77RM130_assertion wasDerivedFrom lhgdn-20090331 NP135364.RAKwoir67VT1EqcXBjCwooxn_3dBWP3NnaLUV0hif77RM130_provenance.
- NP135364.RAKwoir67VT1EqcXBjCwooxn_3dBWP3NnaLUV0hif77RM130_assertion wasGeneratedBy ECO_0000203 NP135364.RAKwoir67VT1EqcXBjCwooxn_3dBWP3NnaLUV0hif77RM130_provenance.