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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HPRT1

Variant:p.I82_A84del3

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HPRT1

NM_000194.3:p.I82_A84del3

hg38:chrX:134475289 CATCAAAGCA>C

Associated Papers

Retrospective chart review of inherited and idiopathic dystonia.

Alakkas A et al.

Frontiers in Genetics, 2025

40134721 (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."