Varaico: Literature-Extracted Genetic Variants

Gene:SIN3A
Variant:p.K155E
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SIN3A

NM_001145358.2:p.K155E

Associated Papers

Stability and interaction defects in the Sin3A PAH1 αα-hub domain associated with loss of function variants.

Due AD et al.

The Journal of Biological Chemistry, 2026

Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype.

Balasubramanian M et al.

European Journal of Human Genetics : Ejhg, 2021

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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."