Varaico: Literature-Extracted Genetic Variants

Gene:SPTBN2
Variant:p.C627Y
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SPTBN2

NM_006946.4:p.C627Y

Associated Papers

Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes.

Sun M et al.

Genetics in Medicine : Official Journal of the American College of Medical 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."