Varaico: Literature-Extracted Genetic Variants

Gene:HPCA
Variant:p.A190P
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HPCA

NM_002143.3:p.A190P

Associated Papers

Infantile-onset choreo-dystonia due to a novel homozygous truncating HPCA variant: A first report from India.

Holla VV et al.

Parkinsonism & Related Disorders, 2025

Childhood-Onset Choreo-Dystonia Due to a Recurrent Novel Homozygous Nonsense HPCA Variant: Case Series and Literature Review.

Magrinelli F et al.

Movement Disorders Clinical Practice, 2023

Delineating the phenotype of autosomal-recessive HPCA mutations: Not only isolated dystonia!

Balint B et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2019

DYT2 revealed: Hippocalcin mutations cause autosomal-recessive isolated dystonia.

Erro R et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2015

Mutations in HPCA cause autosomal-recessive primary isolated dystonia.

Charlesworth G et al.

American Journal of Human Genetics, 2015

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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."