Varaico: Literature-Extracted Genetic Variants

Gene:STXBP2
Variant:p.V417fs
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STXBP2

NM_006949.4:p.V417fs

Associated Papers

MYO5B, STX3, and STXBP2 mutations reveal a common disease mechanism that unifies a subset of congenital diarrheal disorders: A mutation update.

Dhekne HS et al.

Human Mutation, 2018

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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."