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- source_evidence_literature type ECO_0000212 NP941725.RAjWRpgRmOSDwCeTT04mxx9euukzjLZRKjUF44H0WsMHU130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP941725.RAjWRpgRmOSDwCeTT04mxx9euukzjLZRKjUF44H0WsMHU130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP941725.RAjWRpgRmOSDwCeTT04mxx9euukzjLZRKjUF44H0WsMHU130_provenance.
- NP941725.RAjWRpgRmOSDwCeTT04mxx9euukzjLZRKjUF44H0WsMHU130_assertion description "[Mutations in the SLC26A4 gene encoding for pendrin are responsible for both syndromic (Pendred syndrome) and non-syndromic (non-syndromic enlarged vestibular aqueduct, EVA) hearing loss.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP941725.RAjWRpgRmOSDwCeTT04mxx9euukzjLZRKjUF44H0WsMHU130_provenance.
- NP941725.RAjWRpgRmOSDwCeTT04mxx9euukzjLZRKjUF44H0WsMHU130_assertion evidence source_evidence_literature NP941725.RAjWRpgRmOSDwCeTT04mxx9euukzjLZRKjUF44H0WsMHU130_provenance.
- NP941725.RAjWRpgRmOSDwCeTT04mxx9euukzjLZRKjUF44H0WsMHU130_assertion SIO_000772 22116360 NP941725.RAjWRpgRmOSDwCeTT04mxx9euukzjLZRKjUF44H0WsMHU130_provenance.
- NP941725.RAjWRpgRmOSDwCeTT04mxx9euukzjLZRKjUF44H0WsMHU130_assertion wasDerivedFrom befree-2016 NP941725.RAjWRpgRmOSDwCeTT04mxx9euukzjLZRKjUF44H0WsMHU130_provenance.
- NP941725.RAjWRpgRmOSDwCeTT04mxx9euukzjLZRKjUF44H0WsMHU130_assertion wasGeneratedBy ECO_0000203 NP941725.RAjWRpgRmOSDwCeTT04mxx9euukzjLZRKjUF44H0WsMHU130_provenance.
- befree-2016 importedOn "2016-02-19" NP941725.RAjWRpgRmOSDwCeTT04mxx9euukzjLZRKjUF44H0WsMHU130_provenance.