Varaico: Literature-Extracted Genetic Variants

Gene:TOR1A
Variant:p.H101delFs
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TOR1A

NM_000113.3:p.H101delFs

Associated Papers

Integrated Genome and Transcriptome Sequencing to Solve a Neuromuscular Puzzle: Miyoshi Muscular Dystrophy and Early Onset Primary Dystonia in Siblings of the Same Family.

Zhu F et al.

Frontiers in Genetics, 2021

Epidemiology of DYT1 dystonia: Estimating prevalence via genetic ascertainment.

Park J et al.

Neurology. Genetics, 2019

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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."