Varaico: Literature-Extracted Genetic Variants

Gene:HPCA
Variant:p.A61V
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HPCA

NM_002143.3:p.A61V

Associated Papers

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

Park SY

Neuroscience Letters, 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

Specific Cognitive Changes due to Hippocalcin Alterations? A Novel Familial Homozygous Hippocalcin Variant Associated with Inherited Dystonia and Altered Cognition.

Siegert S et al.

Neuropediatrics, 2021

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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."