Varaico: Literature-Extracted Genetic Variants

Gene:ATL1
Variant:p.V405M
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ATL1

NM_015915.5:p.V405M

Associated Papers

[A case of spastic paraplegia with SPG4 and SPG3 associated mutations].

Rudenskaya GE et al.

Zhurnal Nevrologii I Psikhiatrii Imeni S.s. Korsakova, 2023

Identification of pathogenic missense mutations using protein stability predictors.

Gerasimavicius L et al.

Scientific Reports, 2020

32958805 (PubMed )
Supplement: 41598_2020_72404_MOESM2_ESM.xlsx › gnomAD

Mutational Spectrum of Spast (Spg4) and Atl1 (Spg3a) Genes In Russian Patients With Hereditary Spastic Paraplegia.

Kadnikova VA et al.

Scientific Reports, 2019

Genome sequencing uncovers phenocopies in primary progressive multiple sclerosis.

Jia X et al.

Annals of Neurology, 2018

29908077 (PubMed )
Supplement: ANA-84-51-s004.pdf
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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."