Varaico: Literature-Extracted Genetic Variants

Gene:TECPR2
Variant:p.R1336W
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TECPR2

NM_014844.5:p.R1336W

Associated Papers

The neuropathy-linked protein TECPR2 is a Rab5 effector that regulates cargo recycling from early endosomes.

Paul S et al.

Nature Communications, 2025

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG49

Decoding complex inherited phenotypes in rare disorders: the DECIPHERD initiative for rare undiagnosed diseases in Chile.

Poli MC et al.

European Journal of Human Genetics : Ejhg, 2024

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."