Varaico: Literature-Extracted Genetic Variants

Gene:SPTBN2
Variant:p.R351P
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SPTBN2

NM_006946.4:p.R351P

Associated Papers

Expanding the Landscape of Spinocerebellar Ataxia Type 5.

Benevides ML et al.

Neuropediatrics, 2022

Two novel missense variants in SPTBN2 likely associated with spinocerebellar ataxia type 5.

Bian X et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2021

De novo variants in neurodevelopmental disorders-experiences from a tertiary care center.

Brunet T et al.

Clinical Genetics, 2021

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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."