Varaico: Literature-Extracted Genetic Variants

Gene:ECHS1
Variant:p.R197W
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ECHS1

NM_004092.4:p.R197W

Associated Papers

Proteogenomic characterization of skull-base chordoma.

Zhang Q et al.

Nature Communications, 2024

39333076 (PubMed )
Supplement: 41467_2024_52285_MOESM5_ESM.xlsx › Supplementary_Data_2A

ECHS1 deficiency and its biochemical and clinical phenotype.

Ozlu C et al.

American Journal of Medical Genetics. Part A, 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."