Varaico: Literature-Extracted Genetic Variants

Gene:MEF2C
Variant:p.T22T
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MEF2C

NM_002397.5:p.T22T

Associated Papers

The role of untranslated region variants in Mendelian disease: a review.

Wieder N et al.

European Journal of Human Genetics : Ejhg, 2025

A curated census of pathogenic and likely pathogenic UTR variants and evaluation of deep learning models for variant effect prediction.

Bohn E et al.

Frontiers in Molecular Biosciences, 2023

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