Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP455315.RA92-IrsEq0mJFHUHbqpQaDfgqaXLJu_K1WtLzI7vLaXw130_assertion> ?p ?o ?g. }
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- NP455315.RA92-IrsEq0mJFHUHbqpQaDfgqaXLJu_K1WtLzI7vLaXw130_assertion type Assertion NP455315.RA92-IrsEq0mJFHUHbqpQaDfgqaXLJu_K1WtLzI7vLaXw130_head.
- NP455315.RA92-IrsEq0mJFHUHbqpQaDfgqaXLJu_K1WtLzI7vLaXw130_assertion description "[The PHF8 missense mutation c.836C>T is associated with mild MR, mild dysmorphic features, and either unilateral or bilateral cleft lip and cleft palate in two male siblings.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP455315.RA92-IrsEq0mJFHUHbqpQaDfgqaXLJu_K1WtLzI7vLaXw130_provenance.
- NP455315.RA92-IrsEq0mJFHUHbqpQaDfgqaXLJu_K1WtLzI7vLaXw130_assertion evidence source_evidence_literature NP455315.RA92-IrsEq0mJFHUHbqpQaDfgqaXLJu_K1WtLzI7vLaXw130_provenance.
- NP455315.RA92-IrsEq0mJFHUHbqpQaDfgqaXLJu_K1WtLzI7vLaXw130_assertion SIO_000772 19843542 NP455315.RA92-IrsEq0mJFHUHbqpQaDfgqaXLJu_K1WtLzI7vLaXw130_provenance.
- NP455315.RA92-IrsEq0mJFHUHbqpQaDfgqaXLJu_K1WtLzI7vLaXw130_assertion wasDerivedFrom befree-20140225 NP455315.RA92-IrsEq0mJFHUHbqpQaDfgqaXLJu_K1WtLzI7vLaXw130_provenance.
- NP455315.RA92-IrsEq0mJFHUHbqpQaDfgqaXLJu_K1WtLzI7vLaXw130_assertion wasGeneratedBy ECO_0000203 NP455315.RA92-IrsEq0mJFHUHbqpQaDfgqaXLJu_K1WtLzI7vLaXw130_provenance.