Varaico: Literature-Extracted Genetic Variants

Gene:TECPR2
Variant:p.L1139fs
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TECPR2

NM_014844.5:p.L1139fs

Associated Papers

Neuropathy-associated Tecpr2 mutation knock-in mice reveal endolysosomal loss of function phenotypes in neurons and microglia.

Bhattacharya D et al.

Cell Death & Disease, 2025

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

Neuser S et al.

Human Mutation, 2021

Lessons learned from expanded reproductive carrier screening in self-reported Ashkenazi, Sephardi, and Mizrahi Jewish patients.

Akler G et al.

Molecular Genetics & Genomic Medicine, 2020

31880409 (PubMed )
Supplement: MGG3-8-e1053-s001.xlsx › Sheet1
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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."