Varaico: Literature-Extracted Genetic Variants

Gene:ECHS1
Variant:p.T180P
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ECHS1

NM_004092.4:p.T180P

Associated Papers

Pathogenic Biallelic Mutations in ECHS1 in a Case with Short-Chain Enoyl-CoA Hydratase (SCEH) Deficiency-Case Report and Literature Review.

Muntean C et al.

International Journal of Environmental Research and Public Health, 2022

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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."