Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP626600.RAHq-CDg1Mzqm2njBdvA3BB60KTeHwa4tmAOra5Lctfys130_assertion> ?p ?o ?g. }
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- NP626600.RAHq-CDg1Mzqm2njBdvA3BB60KTeHwa4tmAOra5Lctfys130_assertion type Assertion NP626600.RAHq-CDg1Mzqm2njBdvA3BB60KTeHwa4tmAOra5Lctfys130_head.
- NP626600.RAHq-CDg1Mzqm2njBdvA3BB60KTeHwa4tmAOra5Lctfys130_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." NP626600.RAHq-CDg1Mzqm2njBdvA3BB60KTeHwa4tmAOra5Lctfys130_provenance.
- NP626600.RAHq-CDg1Mzqm2njBdvA3BB60KTeHwa4tmAOra5Lctfys130_assertion evidence source_evidence_literature NP626600.RAHq-CDg1Mzqm2njBdvA3BB60KTeHwa4tmAOra5Lctfys130_provenance.
- NP626600.RAHq-CDg1Mzqm2njBdvA3BB60KTeHwa4tmAOra5Lctfys130_assertion SIO_000772 16565358 NP626600.RAHq-CDg1Mzqm2njBdvA3BB60KTeHwa4tmAOra5Lctfys130_provenance.
- NP626600.RAHq-CDg1Mzqm2njBdvA3BB60KTeHwa4tmAOra5Lctfys130_assertion wasDerivedFrom befree-20150227 NP626600.RAHq-CDg1Mzqm2njBdvA3BB60KTeHwa4tmAOra5Lctfys130_provenance.
- NP626600.RAHq-CDg1Mzqm2njBdvA3BB60KTeHwa4tmAOra5Lctfys130_assertion wasGeneratedBy ECO_0000203 NP626600.RAHq-CDg1Mzqm2njBdvA3BB60KTeHwa4tmAOra5Lctfys130_provenance.