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- source_evidence_literature type ECO_0000212 NP603802.RAOkCyBkCchOMCV8QghiLcCQJus1zBxomEXKJf_kaAFJ0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP603802.RAOkCyBkCchOMCV8QghiLcCQJus1zBxomEXKJf_kaAFJ0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP603802.RAOkCyBkCchOMCV8QghiLcCQJus1zBxomEXKJf_kaAFJ0130_provenance.
- NP603802.RAOkCyBkCchOMCV8QghiLcCQJus1zBxomEXKJf_kaAFJ0130_assertion description "[Mutations in these genes cause autosomal recessive (GJB2 and GJB3), autosomal dominant (GJB2, GJB3, and GJB6) or X-linked (GJB1) hearing impairment, both syndromic (GJB2, keratoderma; GJB3 erythrokeratodermia variabilis; and GJB1, peripheral neuropathy), and non-syndromic (GJB2, GJB3, and GJB6).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP603802.RAOkCyBkCchOMCV8QghiLcCQJus1zBxomEXKJf_kaAFJ0130_provenance.
- NP603802.RAOkCyBkCchOMCV8QghiLcCQJus1zBxomEXKJf_kaAFJ0130_assertion evidence source_evidence_literature NP603802.RAOkCyBkCchOMCV8QghiLcCQJus1zBxomEXKJf_kaAFJ0130_provenance.
- NP603802.RAOkCyBkCchOMCV8QghiLcCQJus1zBxomEXKJf_kaAFJ0130_assertion SIO_000772 10980526 NP603802.RAOkCyBkCchOMCV8QghiLcCQJus1zBxomEXKJf_kaAFJ0130_provenance.
- NP603802.RAOkCyBkCchOMCV8QghiLcCQJus1zBxomEXKJf_kaAFJ0130_assertion wasDerivedFrom befree-20140225 NP603802.RAOkCyBkCchOMCV8QghiLcCQJus1zBxomEXKJf_kaAFJ0130_provenance.
- NP603802.RAOkCyBkCchOMCV8QghiLcCQJus1zBxomEXKJf_kaAFJ0130_assertion wasGeneratedBy ECO_0000203 NP603802.RAOkCyBkCchOMCV8QghiLcCQJus1zBxomEXKJf_kaAFJ0130_provenance.
- befree-20140225 importedOn "2014-02-25" NP603802.RAOkCyBkCchOMCV8QghiLcCQJus1zBxomEXKJf_kaAFJ0130_provenance.