Varaico: Literature-Extracted Genetic Variants

Gene:SLC52A3
Variant:p.P220H
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SLC52A3

NM_033409.4:p.P220H

Associated Papers

Brown-Vialetto-Van Laere and Fazio-Londe syndromes: SLC52A3 mutations with puzzling phenotypes and inheritance.

Gayathri S et al.

European Journal of Neurology, 2021

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

Four novel C20orf54 mutations identified in Brown-Vialetto-Van Laere syndrome patients.

Dezfouli MA et al.

Journal of Human Genetics, 2012

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