Varaico: Literature-Extracted Genetic Variants

Gene:TECPR2
Variant:p.L440delFs
Back to variants list

TECPR2

NM_014844.5:p.L440delFs

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

Progressive cerebellar atrophy caused by heterozygous TECPR2 mutations.

Ramsey K et al.

Molecular Genetics & Genomic Medicine, 2022

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."