Varaico: Literature-Extracted Genetic Variants

Gene:SPG11
Variant:p.C1476fs
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SPG11

NM_025137.4:p.C1476fs

Associated Papers

Burden of rare variants in causative genes for amyotrophic lateral sclerosis (ALS) accelerates age at onset of ALS.

Naruse H et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2019

Molecular epidemiology and clinical spectrum of hereditary spastic paraplegia in the Japanese population based on comprehensive mutational analyses.

Ishiura H et al.

Journal of Human Genetics, 2014

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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."