Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP513181.RApgxSaRVm9kBCv4GEtpscAUl48F88c9LQO04DSNOmeEI130_assertion> ?p ?o ?g. }
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- NP513181.RApgxSaRVm9kBCv4GEtpscAUl48F88c9LQO04DSNOmeEI130_assertion type Assertion NP513181.RApgxSaRVm9kBCv4GEtpscAUl48F88c9LQO04DSNOmeEI130_head.
- NP513181.RApgxSaRVm9kBCv4GEtpscAUl48F88c9LQO04DSNOmeEI130_assertion description "[We report here a new family with X-linked mental retardation due to mutation in OPHN1 and present unpublished data about two families previously reported, concerning the facial and psychological phenotype of affected males and carrier females.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP513181.RApgxSaRVm9kBCv4GEtpscAUl48F88c9LQO04DSNOmeEI130_provenance.
- NP513181.RApgxSaRVm9kBCv4GEtpscAUl48F88c9LQO04DSNOmeEI130_assertion evidence source_evidence_literature NP513181.RApgxSaRVm9kBCv4GEtpscAUl48F88c9LQO04DSNOmeEI130_provenance.
- NP513181.RApgxSaRVm9kBCv4GEtpscAUl48F88c9LQO04DSNOmeEI130_assertion SIO_000772 16158428 NP513181.RApgxSaRVm9kBCv4GEtpscAUl48F88c9LQO04DSNOmeEI130_provenance.
- NP513181.RApgxSaRVm9kBCv4GEtpscAUl48F88c9LQO04DSNOmeEI130_assertion wasDerivedFrom befree-2016 NP513181.RApgxSaRVm9kBCv4GEtpscAUl48F88c9LQO04DSNOmeEI130_provenance.
- NP513181.RApgxSaRVm9kBCv4GEtpscAUl48F88c9LQO04DSNOmeEI130_assertion wasGeneratedBy ECO_0000203 NP513181.RApgxSaRVm9kBCv4GEtpscAUl48F88c9LQO04DSNOmeEI130_provenance.