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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ETFDH

Variant:p.A76E

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ETFDH

NM_004453.4:p.A76E

hg38:chr4:158682246 C>A

Associated Papers

Clinical and genetical heterogeneity of late-onset multiple acyl-coenzyme A dehydrogenase deficiency.

Grünert SC

Orphanet Journal of Rare Diseases, 2014

25200064 (PubMed )

Supplement: s13023-014-0117-5-S1.doc

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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."