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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ECHS1

Variant:p.G42_T46delFs

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ECHS1

NM_004092.4:p.G42_T46delFs

hg38:chr10:133370706 ACGGTGTTATTCTT>A

Associated Papers

ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism.

Peters H et al.

Brain : a Journal of Neurology, 2014

25125611 (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."