Varaico: Literature-Extracted Genetic Variants

Gene:COX6B1
Variant:p.W31R
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COX6B1

NM_001863.5:p.W31R

Associated Papers

A novel homozygous pathogenic missense variant in COX6B1: Further delineation of the phenotype.

Jennions E et al.

American Journal of Medical Genetics. Part A, 2024

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