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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ETFB

Variant:p.D308D

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ETFB

NM_001014763.1:p.D308D

hg38:chr19:51345328 G>A

Associated Papers

Riboflavin-responsive lipid-storage myopathy caused by ETFDH gene mutations.

Wen B et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2010

19758981 (PubMed )

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."