Varaico: Literature-Extracted Genetic Variants

Gene:ATP6V1E2
Variant:p.V46M
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ATP6V1E2

NM_001318063.2:p.V46M

Associated Papers

The pharmacogenomic landscape in the Chinese: An analytics of pharmacogenetic variants in 206,640 individuals.

Wang LY et al.

Innovation (cambridge (mass.)), 2025

39991480 (PubMed )
Supplement: mmc5.xlsx › Sheet1

Early Onset of Combined Oxidative Phosphorylation Deficiency in Two Chinese Brothers Caused by a Homozygous (Leu275Phe) Mutation in the C1QBP Gene.

Wang J et al.

Frontiers in Pediatrics, 2020

33344382 (PubMed )
Supplement: Table_2.XLSX › Result

Dysregulation of neuron differentiation in an autistic savant with exceptional memory.

Song J et al.

Molecular Brain, 2019

31699123 (PubMed )
Supplement: 13041_2019_507_MOESM1_ESM.xlsx › SNPs_merged_1000g_deleterious

Whole genome sequencing identifies ANXA3 and MTHFR mutations in a large family with an unknown equinus deformity associated genetic disorder.

Zhang Z et al.

Molecular Biology Reports, 2016

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