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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HPCA

Variant:p.Y31fs

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HPCA

NM_002143.3:p.Y31fs

hg38:chr1:32888989 TAC>N

Associated Papers

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

40884872 (PubMed )

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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."