Varaico: Literature-Extracted Genetic Variants

Gene:ATL1
Variant:p.R403P
Back to variants list

ATL1

NM_015915.5:p.R403P

Associated Papers

Expression of genetic peripheral neuropathies in South African children.

Raga SV et al.

Neuromuscular Disorders : Nmd, 2026

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG3

Neuromuscular disease genetics in under-represented populations: increasing data diversity.

Wilson LA et al.

Brain : a Journal of Neurology, 2023

The mutational profile in a South African cohort with inherited neuropathies and spastic paraplegia.

Mahungu AC et al.

Frontiers in Neurology, 2023

Clinical genome sequencing in an unbiased pediatric cohort.

Thiffault I et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

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."