Varaico: Literature-Extracted Genetic Variants

Gene:SPTBN2
Variant:p.R77_D80del4
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SPTBN2

NM_006946.4:p.R77_D80del4

Associated Papers

A Wide Spectrum of Genetic Disorders Causing Severe Childhood Epilepsy in Taiwan: A Case Series of Ultrarare Genetic Cause and Novel Mutation Analysis in a Pilot Study.

Hong SY et al.

Journal of Personalized Medicine, 2020

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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."