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- source_evidence_literature type ECO_0000212 NP868353.RAYxO3QBJynYTQJPDAbX-aKSbWNx9fS8TN0Bgk0TPIef8130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP868353.RAYxO3QBJynYTQJPDAbX-aKSbWNx9fS8TN0Bgk0TPIef8130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP868353.RAYxO3QBJynYTQJPDAbX-aKSbWNx9fS8TN0Bgk0TPIef8130_provenance.
- NP868353.RAYxO3QBJynYTQJPDAbX-aKSbWNx9fS8TN0Bgk0TPIef8130_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." NP868353.RAYxO3QBJynYTQJPDAbX-aKSbWNx9fS8TN0Bgk0TPIef8130_provenance.
- NP868353.RAYxO3QBJynYTQJPDAbX-aKSbWNx9fS8TN0Bgk0TPIef8130_assertion evidence source_evidence_literature NP868353.RAYxO3QBJynYTQJPDAbX-aKSbWNx9fS8TN0Bgk0TPIef8130_provenance.
- NP868353.RAYxO3QBJynYTQJPDAbX-aKSbWNx9fS8TN0Bgk0TPIef8130_assertion SIO_000772 19843542 NP868353.RAYxO3QBJynYTQJPDAbX-aKSbWNx9fS8TN0Bgk0TPIef8130_provenance.
- NP868353.RAYxO3QBJynYTQJPDAbX-aKSbWNx9fS8TN0Bgk0TPIef8130_assertion wasDerivedFrom befree-20150227 NP868353.RAYxO3QBJynYTQJPDAbX-aKSbWNx9fS8TN0Bgk0TPIef8130_provenance.
- NP868353.RAYxO3QBJynYTQJPDAbX-aKSbWNx9fS8TN0Bgk0TPIef8130_assertion wasGeneratedBy ECO_0000203 NP868353.RAYxO3QBJynYTQJPDAbX-aKSbWNx9fS8TN0Bgk0TPIef8130_provenance.
- befree-20150227 importedOn "2015-02-27" NP868353.RAYxO3QBJynYTQJPDAbX-aKSbWNx9fS8TN0Bgk0TPIef8130_provenance.