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- source_evidence_literature type ECO_0000212 NP990790.RA8t9hQck1l2wj-c-5rcr4MJp3xwEvCr9h_Vc1SvSsGEY130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP990790.RA8t9hQck1l2wj-c-5rcr4MJp3xwEvCr9h_Vc1SvSsGEY130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP990790.RA8t9hQck1l2wj-c-5rcr4MJp3xwEvCr9h_Vc1SvSsGEY130_provenance.
- NP990790.RA8t9hQck1l2wj-c-5rcr4MJp3xwEvCr9h_Vc1SvSsGEY130_assertion description "[Analysis of affected families allowed narrowing of the candidate region on chromosome 15q22.31, and mutation screening led to the identification of a previously uncharacterized gene, KBTBD13, coding for a hypothetical protein and containing missense mutations that perfectly cosegregate with nemaline myopathy in the studied families.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP990790.RA8t9hQck1l2wj-c-5rcr4MJp3xwEvCr9h_Vc1SvSsGEY130_provenance.
- NP990790.RA8t9hQck1l2wj-c-5rcr4MJp3xwEvCr9h_Vc1SvSsGEY130_assertion evidence source_evidence_literature NP990790.RA8t9hQck1l2wj-c-5rcr4MJp3xwEvCr9h_Vc1SvSsGEY130_provenance.
- NP990790.RA8t9hQck1l2wj-c-5rcr4MJp3xwEvCr9h_Vc1SvSsGEY130_assertion SIO_000772 21109227 NP990790.RA8t9hQck1l2wj-c-5rcr4MJp3xwEvCr9h_Vc1SvSsGEY130_provenance.
- NP990790.RA8t9hQck1l2wj-c-5rcr4MJp3xwEvCr9h_Vc1SvSsGEY130_assertion wasDerivedFrom befree-20150227 NP990790.RA8t9hQck1l2wj-c-5rcr4MJp3xwEvCr9h_Vc1SvSsGEY130_provenance.
- NP990790.RA8t9hQck1l2wj-c-5rcr4MJp3xwEvCr9h_Vc1SvSsGEY130_assertion wasGeneratedBy ECO_0000203 NP990790.RA8t9hQck1l2wj-c-5rcr4MJp3xwEvCr9h_Vc1SvSsGEY130_provenance.
- befree-20150227 importedOn "2015-02-27" NP990790.RA8t9hQck1l2wj-c-5rcr4MJp3xwEvCr9h_Vc1SvSsGEY130_provenance.