Varaico: Literature-Extracted Genetic Variants

Gene:SPTBN5
Variant:p.R2793W
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SPTBN5

NM_016642.4:p.R2793W

Associated Papers

Efficacy of Ruxolitinib Therapy in a Patient With Severe Enterocolitis Associated With a STAT3 Gain-of-Function Mutation.

Parlato M et al.

Gastroenterology, 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."