Varaico: Literature-Extracted Genetic Variants

Gene:BCAT1
Variant:p.E348K
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BCAT1

NM_005504.7:p.E348K

Associated Papers

Bi-allelic variants in BCAT1 impair mitochondrial function and are associated with a candidate neurometabolic disorder.

DiSanza BL et al.

Hgg Advances, 2026

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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."