Varaico: Literature-Extracted Genetic Variants

Gene:SPAST
Variant:p.R562C
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SPAST

NM_199436.2:p.R562C

Associated Papers

Expanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy Mimics.

Nolasco GA et al.

Annals of Clinical and Translational Neurology, 2026

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

Kadnikova VA et al.

Scientific Reports, 2019

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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."