Varaico: Literature-Extracted Genetic Variants

Gene:SPTBN2
Variant:p.I157T
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SPTBN2

NM_006946.4:p.I157T

Associated Papers

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

Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data.

Aitken S et al.

American Journal of Human Genetics, 2019

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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."