Varaico: Literature-Extracted Genetic Variants

Gene:TECPR2
Variant:p.R1379W
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TECPR2

NM_014844.5:p.R1379W

Associated Papers

TECPR2-related hereditary sensory and autonomic neuropathy in two siblings from Palestine.

Khalaf-Nazzal R et al.

American Journal of Medical Genetics. Part A, 2024

Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability.

Neuser S 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."