Varaico: Literature-Extracted Genetic Variants

Gene:EXOSC2
Variant:p.R236Q
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EXOSC2

NM_014285.7:p.R236Q

Associated Papers

Humanized Saccharomyces cerevisiae provides a facile and effective tool to identify damaging human variants that cause exosomopathies.

Ahammed KS et al.

G3 (bethesda, Md.), 2025

The diagnostic yield, candidate genes, and pitfalls for a genetic study of intellectual disability in 118 middle eastern families.

Al-Kasbi G et al.

Scientific Reports, 2022

36344539 (PubMed )
Supplement: 41598_2022_22036_MOESM2_ESM.xlsx › Table1
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