Varaico: Literature-Extracted Genetic Variants

Gene:TECPR2
Variant:p.L684V
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TECPR2

NM_014844.5:p.L684V

Associated Papers

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

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

Novel TECPR2 variant in two cases of hereditary sensory and autonomic neuropathy type 9: insights from genetic characterization and comprehensive literature review.

Moeinafshar A et al.

Bmc Neurology, 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

TECPR2 mutation-associated respiratory dysregulation: more than central apnea.

Patwari PP et al.

Journal of Clinical Sleep Medicine : Jcsm : Official Publication of the American Academy of Sleep Medicine, 2020

WES in a family trio suggests involvement of TECPR2 in a complex form of progressive motor neuron disease.

Covone AE et al.

Clinical Genetics, 2016

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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."