Varaico: Literature-Extracted Genetic Variants

Gene:VPS16
Variant:p.R456Splc
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VPS16

NM_022575.4:p.R456Splc

Associated Papers

Beyond genomics: using RNA-seq from dried blood spots to unlock the clinical relevance of splicing variation in a diagnostic setting.

Bertoli-Avella AM et al.

European Journal of Human Genetics : Ejhg, 2025

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