Varaico: Literature-Extracted Genetic Variants

Gene:MAG
Variant:p.S133R
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MAG

NM_002361.4:p.S133R

Associated Papers

A Novel MAG Variant Causes Hereditary Spastic Paraplegia in a Consanguineous Pakistani Family.

Akram R et al.

Genes, 2024

Discovery, classification, evolution and diversity of Siglecs.

Angata T et al.

Molecular Aspects of Medicine, 2023

Novel MAG Variant Causes Cerebellar Ataxia with Oculomotor Apraxia: Molecular Basis and Expanded Clinical Phenotype.

Santos M et al.

Journal of Clinical Medicine, 2020

Hereditary spastic paraplegia and prominent sensorial involvement: think MAG mutations!

Roubertie A et al.

Annals of Clinical and Translational Neurology, 2019

Neurologic syndrome associated with homozygous mutation at MAG sialic acid binding site.

Roda RH et al.

Annals of Clinical and Translational Neurology, 2016

Myelin-associated glycoprotein gene mutation causes Pelizaeus-Merzbacher disease-like disorder.

Lossos A et al.

Brain : a Journal of Neurology, 2015

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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."