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- source_evidence_literature type ECO_0000212 NP770464.RAwYa7RScEv8FUzkWPS8SS7lyjJDCH9ogkRu-YxQLU6oA130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP770464.RAwYa7RScEv8FUzkWPS8SS7lyjJDCH9ogkRu-YxQLU6oA130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP770464.RAwYa7RScEv8FUzkWPS8SS7lyjJDCH9ogkRu-YxQLU6oA130_provenance.
- NP770464.RAwYa7RScEv8FUzkWPS8SS7lyjJDCH9ogkRu-YxQLU6oA130_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." NP770464.RAwYa7RScEv8FUzkWPS8SS7lyjJDCH9ogkRu-YxQLU6oA130_provenance.
- NP770464.RAwYa7RScEv8FUzkWPS8SS7lyjJDCH9ogkRu-YxQLU6oA130_assertion evidence source_evidence_literature NP770464.RAwYa7RScEv8FUzkWPS8SS7lyjJDCH9ogkRu-YxQLU6oA130_provenance.
- NP770464.RAwYa7RScEv8FUzkWPS8SS7lyjJDCH9ogkRu-YxQLU6oA130_assertion SIO_000772 19843542 NP770464.RAwYa7RScEv8FUzkWPS8SS7lyjJDCH9ogkRu-YxQLU6oA130_provenance.
- NP770464.RAwYa7RScEv8FUzkWPS8SS7lyjJDCH9ogkRu-YxQLU6oA130_assertion wasDerivedFrom befree-2016 NP770464.RAwYa7RScEv8FUzkWPS8SS7lyjJDCH9ogkRu-YxQLU6oA130_provenance.
- NP770464.RAwYa7RScEv8FUzkWPS8SS7lyjJDCH9ogkRu-YxQLU6oA130_assertion wasGeneratedBy ECO_0000203 NP770464.RAwYa7RScEv8FUzkWPS8SS7lyjJDCH9ogkRu-YxQLU6oA130_provenance.
- befree-2016 importedOn "2016-02-19" NP770464.RAwYa7RScEv8FUzkWPS8SS7lyjJDCH9ogkRu-YxQLU6oA130_provenance.