Varaico: Literature-Extracted Genetic Variants

Gene:SLC52A3
Variant:p.R266W
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SLC52A3

NM_033409.4:p.R266W

Associated Papers

Recent advances in bulbar syndromes: genetic causes and disease mechanisms.

Manole A et al.

Current Opinion in Neurology, 2014

Brown-Vialetto-van Laere and Fazio-Londe overlap syndromes: a clinical, biochemical and genetic study.

Ciccolella M et al.

Neuromuscular Disorders : Nmd, 2012

The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives.

Bosch AM et al.

Orphanet Journal of Rare Diseases, 2012

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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."