Varaico: Literature-Extracted Genetic Variants

Gene:ATL1
Variant:p.R217*
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ATL1

NM_015915.5:p.R217*

Associated Papers

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

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

Patients with complex and very-early-onset ATL1-related spastic paraplegia offer insights on genotype/phenotype correlations and support for autosomal recessive forms of SPG3A.

Hamamie-Chaar A et al.

Journal of Neurology, 2024

A novel homozygous variant in ATL1 associated with early onset spastic paraplegia 3A: Further evidence for autosomal recessive inheritance.

Darouich S et al.

American Journal of Medical Genetics. Part A, 2024

Novel ATL1 mutation in a Chinese family with hereditary spastic paraplegia: A case report and review of literature.

Xiao XW et al.

World Journal of Clinical Cases, 2019

Homozygous mutation in Atlastin GTPase 1 causes recessive hereditary spastic paraplegia.

Willkomm L et al.

Journal of Human 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."