Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP542072.RADSHq-cvyXPCVuVcO_bqS6AE4-PGkzicPMxVgDCEjvnc130_assertion> ?p ?o ?g. }
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- NP542072.RADSHq-cvyXPCVuVcO_bqS6AE4-PGkzicPMxVgDCEjvnc130_assertion type Assertion NP542072.RADSHq-cvyXPCVuVcO_bqS6AE4-PGkzicPMxVgDCEjvnc130_head.
- NP542072.RADSHq-cvyXPCVuVcO_bqS6AE4-PGkzicPMxVgDCEjvnc130_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." NP542072.RADSHq-cvyXPCVuVcO_bqS6AE4-PGkzicPMxVgDCEjvnc130_provenance.
- NP542072.RADSHq-cvyXPCVuVcO_bqS6AE4-PGkzicPMxVgDCEjvnc130_assertion evidence source_evidence_literature NP542072.RADSHq-cvyXPCVuVcO_bqS6AE4-PGkzicPMxVgDCEjvnc130_provenance.
- NP542072.RADSHq-cvyXPCVuVcO_bqS6AE4-PGkzicPMxVgDCEjvnc130_assertion SIO_000772 16565358 NP542072.RADSHq-cvyXPCVuVcO_bqS6AE4-PGkzicPMxVgDCEjvnc130_provenance.
- NP542072.RADSHq-cvyXPCVuVcO_bqS6AE4-PGkzicPMxVgDCEjvnc130_assertion wasDerivedFrom befree-2016 NP542072.RADSHq-cvyXPCVuVcO_bqS6AE4-PGkzicPMxVgDCEjvnc130_provenance.
- NP542072.RADSHq-cvyXPCVuVcO_bqS6AE4-PGkzicPMxVgDCEjvnc130_assertion wasGeneratedBy ECO_0000203 NP542072.RADSHq-cvyXPCVuVcO_bqS6AE4-PGkzicPMxVgDCEjvnc130_provenance.