Varaico: Literature-Extracted Genetic Variants

Gene:VWA3B
Variant:p.K622T
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VWA3B

NM_144992.5:p.K622T

Associated Papers

Childhood-onset ataxia with dystonia: expanding the spectrum of VWA3B-related disorders.

Adarsha N et al.

Journal of Human Genetics, 2026

Estimating the Prevalence of Autosomal Recessive Neuromuscular Diseases in the Korean Population.

Kim SH et al.

Journal of Korean Medical Science, 2025

Case Report: Decoding genetic risks of vascular parkinsonism: a case series.

Shalash A et al.

Frontiers in Genetics, 2025

40786864 (PubMed )
Supplement: Table1.xlsx › S.table1

Mutation Analysis of Autosomal-Dominant Polycystic Kidney Disease Patients.

Suzuki Y et al.

Genes, 2023

36833371 (PubMed )
Supplement: genes-14-00443-s001.zip › genes-2152850-supplementary.xlsx › Table_S7

A homozygous mutation of VWA3B causes cerebellar ataxia with intellectual disability.

Kawarai T et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2016

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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."