Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP854924.RA5P5gREawTK5q-G6ETAjd6slfGSB2EZwHLlWV3zt7-xQ130_assertion> ?p ?o ?g. }
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- NP854924.RA5P5gREawTK5q-G6ETAjd6slfGSB2EZwHLlWV3zt7-xQ130_assertion type Assertion NP854924.RA5P5gREawTK5q-G6ETAjd6slfGSB2EZwHLlWV3zt7-xQ130_head.
- NP854924.RA5P5gREawTK5q-G6ETAjd6slfGSB2EZwHLlWV3zt7-xQ130_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." NP854924.RA5P5gREawTK5q-G6ETAjd6slfGSB2EZwHLlWV3zt7-xQ130_provenance.
- NP854924.RA5P5gREawTK5q-G6ETAjd6slfGSB2EZwHLlWV3zt7-xQ130_assertion evidence source_evidence_literature NP854924.RA5P5gREawTK5q-G6ETAjd6slfGSB2EZwHLlWV3zt7-xQ130_provenance.
- NP854924.RA5P5gREawTK5q-G6ETAjd6slfGSB2EZwHLlWV3zt7-xQ130_assertion SIO_000772 21109227 NP854924.RA5P5gREawTK5q-G6ETAjd6slfGSB2EZwHLlWV3zt7-xQ130_provenance.
- NP854924.RA5P5gREawTK5q-G6ETAjd6slfGSB2EZwHLlWV3zt7-xQ130_assertion wasDerivedFrom befree-2016 NP854924.RA5P5gREawTK5q-G6ETAjd6slfGSB2EZwHLlWV3zt7-xQ130_provenance.
- NP854924.RA5P5gREawTK5q-G6ETAjd6slfGSB2EZwHLlWV3zt7-xQ130_assertion wasGeneratedBy ECO_0000203 NP854924.RA5P5gREawTK5q-G6ETAjd6slfGSB2EZwHLlWV3zt7-xQ130_provenance.