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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TSPOAP1

Variant:p.R1058insFs

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TSPOAP1

NM_004758.4:p.R1058insFs

hg38:chr17:58311122 C>CG

Associated Papers

Expanding the genotypic and phenotypic spectrum of DYT-TSPOAP1: First report from India.

Holla VV et al.

Parkinsonism & Related Disorders, 2026

41371074 (PubMed )

Clinical and genetic profile of patients with dystonia: An experience from a tertiary neurology center from India.

Dhar D et al.

Parkinsonism & Related Disorders, 2024

38219528 (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."