Varaico: Literature-Extracted Genetic Variants

Gene:HPCA
Variant:p.R17*
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HPCA

NM_002143.3:p.R17*

Associated Papers

Mini-review: "Hippocalcin: Molecular mechanisms and therapeutic potential in neuronal function".

Park SY

Neuroscience Letters, 2025

Case Report of Pediatric HPCA-Associated Dystonia: Analysis of Ca2+ and K+ Channel Dynamics and Experience With Pallidal Deep Brain Stimulation.

Nou-Fontanet L et al.

Pediatric Neurology, 2025

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

Clinical and genotypic analysis in determining dystonia non-motor phenotypic heterogeneity: a UK Biobank study.

Wadon ME et al.

Journal of Neurology, 2022

35925398 (PubMed )
Supplement: 415_2022_11307_MOESM4_ESM.xlsx › Sheet1
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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."