Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP338859.RA7NkpvXLjLqkuCNMNuqLqEQtC5tUhD6scLPP74Nda3Qc130_assertion> ?p ?o ?g. }
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- NP338859.RA7NkpvXLjLqkuCNMNuqLqEQtC5tUhD6scLPP74Nda3Qc130_assertion type Assertion NP338859.RA7NkpvXLjLqkuCNMNuqLqEQtC5tUhD6scLPP74Nda3Qc130_head.
- NP338859.RA7NkpvXLjLqkuCNMNuqLqEQtC5tUhD6scLPP74Nda3Qc130_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." NP338859.RA7NkpvXLjLqkuCNMNuqLqEQtC5tUhD6scLPP74Nda3Qc130_provenance.
- NP338859.RA7NkpvXLjLqkuCNMNuqLqEQtC5tUhD6scLPP74Nda3Qc130_assertion evidence source_evidence_literature NP338859.RA7NkpvXLjLqkuCNMNuqLqEQtC5tUhD6scLPP74Nda3Qc130_provenance.
- NP338859.RA7NkpvXLjLqkuCNMNuqLqEQtC5tUhD6scLPP74Nda3Qc130_assertion SIO_000772 19843542 NP338859.RA7NkpvXLjLqkuCNMNuqLqEQtC5tUhD6scLPP74Nda3Qc130_provenance.
- NP338859.RA7NkpvXLjLqkuCNMNuqLqEQtC5tUhD6scLPP74Nda3Qc130_assertion wasDerivedFrom befree-20140225 NP338859.RA7NkpvXLjLqkuCNMNuqLqEQtC5tUhD6scLPP74Nda3Qc130_provenance.
- NP338859.RA7NkpvXLjLqkuCNMNuqLqEQtC5tUhD6scLPP74Nda3Qc130_assertion wasGeneratedBy ECO_0000203 NP338859.RA7NkpvXLjLqkuCNMNuqLqEQtC5tUhD6scLPP74Nda3Qc130_provenance.