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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HSD17B6

Variant:p.K180E

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HSD17B6

NM_003725.4:p.K180E

hg38:chr12:56782198 A>G

Associated Papers

Mitochondrial Fatty Acid Oxidation Disorders Associated with Short-Chain Enoyl-CoA Hydratase (ECHS1) Deficiency.

Sharpe AJ et al.

Cells, 2018

29882869 (PubMed )

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