Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP480968.RAo3NcL3Nq6ELprGoxXOXmjTzCY3iiZhLqd1msT6CIiLo130_assertion> ?p ?o ?g. }
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- NP480968.RAo3NcL3Nq6ELprGoxXOXmjTzCY3iiZhLqd1msT6CIiLo130_assertion type Assertion NP480968.RAo3NcL3Nq6ELprGoxXOXmjTzCY3iiZhLqd1msT6CIiLo130_head.
- NP480968.RAo3NcL3Nq6ELprGoxXOXmjTzCY3iiZhLqd1msT6CIiLo130_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." NP480968.RAo3NcL3Nq6ELprGoxXOXmjTzCY3iiZhLqd1msT6CIiLo130_provenance.
- NP480968.RAo3NcL3Nq6ELprGoxXOXmjTzCY3iiZhLqd1msT6CIiLo130_assertion evidence source_evidence_literature NP480968.RAo3NcL3Nq6ELprGoxXOXmjTzCY3iiZhLqd1msT6CIiLo130_provenance.
- NP480968.RAo3NcL3Nq6ELprGoxXOXmjTzCY3iiZhLqd1msT6CIiLo130_assertion SIO_000772 16565358 NP480968.RAo3NcL3Nq6ELprGoxXOXmjTzCY3iiZhLqd1msT6CIiLo130_provenance.
- NP480968.RAo3NcL3Nq6ELprGoxXOXmjTzCY3iiZhLqd1msT6CIiLo130_assertion wasDerivedFrom befree-20140225 NP480968.RAo3NcL3Nq6ELprGoxXOXmjTzCY3iiZhLqd1msT6CIiLo130_provenance.
- NP480968.RAo3NcL3Nq6ELprGoxXOXmjTzCY3iiZhLqd1msT6CIiLo130_assertion wasGeneratedBy ECO_0000203 NP480968.RAo3NcL3Nq6ELprGoxXOXmjTzCY3iiZhLqd1msT6CIiLo130_provenance.