Varaico: Literature-Extracted Genetic Variants

Gene:TOR1A
Variant:p.Q72*
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TOR1A

NM_000113.3:p.Q72*

Associated Papers

The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.

Saffari A et al.

Brain : a Journal of Neurology, 2023

Expanding the genotypes and phenotypes for 19 rare diseases by exome sequencing performed in pediatric intensive care unit.

Liu J et al.

Human Mutation, 2021

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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."