Varaico: Literature-Extracted Genetic Variants

Gene:THOC6
Variant:p.V326G
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THOC6

NM_024339.5:p.V326G

Associated Papers

Mechanisms of mRNA processing defects in inherited THOC6 intellectual disability syndrome.

Werren E et al.

Research Square, 2023

Biallelic THOC6 pathogenic variants: Prenatal phenotype and review of the literature.

Ruaud L et al.

Birth Defects Research, 2022

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