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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HPCA

Variant:p.G59_D60del2

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HPCA

NM_002143.3:p.G59_D60del2

hg38:chr1:32889072 TGGTGAC>T

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

39955173 (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."