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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ECHS1

Variant:p.M1T

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ECHS1

NM_004092.4:p.M1T

hg38:chr10:133373332 A>G

Associated Papers

Strategic validation of variants of uncertain significance in ECHS1 genetic testing.

Kishita Y et al.

Journal of Medical Genetics, 2023

37055166 (PubMed )

Valine metabolites analysis in ECHS1 deficiency.

Kuwajima M et al.

Molecular Genetics and Metabolism Reports, 2021

34667719 (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."