Varaico: Literature-Extracted Genetic Variants

Gene:VCP
Variant:p.F267_L268del1
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VCP

NM_007126.5:p.F267_L268del1

Associated Papers

Burden re-analysis of neurodevelopmental disorder cohorts for prioritization of candidate genes.

Smal N et al.

European Journal of Human Genetics : Ejhg, 2024

An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP.

Mah-Som AY et al.

American Journal of Human Genetics, 2023

Exploring dementia and neuronal ceroid lipofuscinosis genes in 100 FTD-like patients from 6 towns and rural villages on the Adriatic Sea cost of Apulia.

Sassi C et al.

Scientific Reports, 2021

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