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- source_evidence_literature type ECO_0000212 NP338635.RAaoPNOIa-mDXln9c5lertayKbYhNDEYcbJ3z_j8bikIk130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP338635.RAaoPNOIa-mDXln9c5lertayKbYhNDEYcbJ3z_j8bikIk130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP338635.RAaoPNOIa-mDXln9c5lertayKbYhNDEYcbJ3z_j8bikIk130_provenance.
- NP338635.RAaoPNOIa-mDXln9c5lertayKbYhNDEYcbJ3z_j8bikIk130_assertion description "[Mutation screening of 67 females with idiopathic POF identified a third patient with a missense mutation (H165R) located in the cytochrome b5 domain of PGRMC1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP338635.RAaoPNOIa-mDXln9c5lertayKbYhNDEYcbJ3z_j8bikIk130_provenance.
- NP338635.RAaoPNOIa-mDXln9c5lertayKbYhNDEYcbJ3z_j8bikIk130_assertion evidence source_evidence_literature NP338635.RAaoPNOIa-mDXln9c5lertayKbYhNDEYcbJ3z_j8bikIk130_provenance.
- NP338635.RAaoPNOIa-mDXln9c5lertayKbYhNDEYcbJ3z_j8bikIk130_assertion SIO_000772 18782852 NP338635.RAaoPNOIa-mDXln9c5lertayKbYhNDEYcbJ3z_j8bikIk130_provenance.
- NP338635.RAaoPNOIa-mDXln9c5lertayKbYhNDEYcbJ3z_j8bikIk130_assertion wasDerivedFrom befree-20150227 NP338635.RAaoPNOIa-mDXln9c5lertayKbYhNDEYcbJ3z_j8bikIk130_provenance.
- NP338635.RAaoPNOIa-mDXln9c5lertayKbYhNDEYcbJ3z_j8bikIk130_assertion wasGeneratedBy ECO_0000203 NP338635.RAaoPNOIa-mDXln9c5lertayKbYhNDEYcbJ3z_j8bikIk130_provenance.
- befree-20150227 importedOn "2015-02-27" NP338635.RAaoPNOIa-mDXln9c5lertayKbYhNDEYcbJ3z_j8bikIk130_provenance.