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- source_evidence_literature type ECO_0000212 NP777258.RA0-Yil2DzYcxejT8MMNg-uaS_lA0z_2thCEUzkmHK0ts130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP777258.RA0-Yil2DzYcxejT8MMNg-uaS_lA0z_2thCEUzkmHK0ts130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP777258.RA0-Yil2DzYcxejT8MMNg-uaS_lA0z_2thCEUzkmHK0ts130_provenance.
- NP777258.RA0-Yil2DzYcxejT8MMNg-uaS_lA0z_2thCEUzkmHK0ts130_assertion description "[Dynamin 2 (DNM2)-related dominant centronuclear myopathy is usually a mild disorder, but more severe variants have been associated with mutations affecting the pleckstrin homology (PH) domain of the protein, mainly implicated in different forms of Charcot-Marie-Tooth Disease (CMT).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP777258.RA0-Yil2DzYcxejT8MMNg-uaS_lA0z_2thCEUzkmHK0ts130_provenance.
- NP777258.RA0-Yil2DzYcxejT8MMNg-uaS_lA0z_2thCEUzkmHK0ts130_assertion evidence source_evidence_literature NP777258.RA0-Yil2DzYcxejT8MMNg-uaS_lA0z_2thCEUzkmHK0ts130_provenance.
- NP777258.RA0-Yil2DzYcxejT8MMNg-uaS_lA0z_2thCEUzkmHK0ts130_assertion SIO_000772 19932620 NP777258.RA0-Yil2DzYcxejT8MMNg-uaS_lA0z_2thCEUzkmHK0ts130_provenance.
- NP777258.RA0-Yil2DzYcxejT8MMNg-uaS_lA0z_2thCEUzkmHK0ts130_assertion wasDerivedFrom befree-2016 NP777258.RA0-Yil2DzYcxejT8MMNg-uaS_lA0z_2thCEUzkmHK0ts130_provenance.
- NP777258.RA0-Yil2DzYcxejT8MMNg-uaS_lA0z_2thCEUzkmHK0ts130_assertion wasGeneratedBy ECO_0000203 NP777258.RA0-Yil2DzYcxejT8MMNg-uaS_lA0z_2thCEUzkmHK0ts130_provenance.
- befree-2016 importedOn "2016-02-19" NP777258.RA0-Yil2DzYcxejT8MMNg-uaS_lA0z_2thCEUzkmHK0ts130_provenance.