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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ECHDC1

Variant:p.G74_V75del1

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ECHDC1

NM_001002030.2:p.G74_V75del1

hg38:chr6:127327141 ACAC>A

Associated Papers

Variants in the ethylmalonyl-CoA decarboxylase (ECHDC1) gene: a novel player in ethylmalonic aciduria?

Fogh S et al.

Journal of Inherited Metabolic Disease, 2021

33973257 (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."