Varaico: Literature-Extracted Genetic Variants

Gene:SIGMAR1
Variant:p.L95fs
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SIGMAR1

NM_005866.4:p.L95fs

Associated Papers

Sigmar1's Molecular, Cellular, and Biological Functions in Regulating Cellular Pathophysiology.

Aishwarya R et al.

Frontiers in Physiology, 2021

Mutations in the SIGMAR1 gene cause a distal hereditary motor neuropathy phenotype mimicking ALS: Report of two novel variants.

Ma MT et al.

Neuromuscular Disorders : Nmd, 2020

Recessive distal motor neuropathy with pyramidal signs in an Omani kindred: underlying novel mutation in the SIGMAR1 gene.

Nandhagopal R et al.

European Journal of Neurology, 2018

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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."