Varaico: Literature-Extracted Genetic Variants

Gene:STX3
Variant:p.E41G
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STX3

NM_004177.5:p.E41G

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

29266534 (PubMed )
Supplement: HUMU-39-333-s002.docx

Autosomal recessive congenital cataract, intellectual disability phenotype linked to STX3 in a consanguineous Tunisian family.

Chograni M et al.

Clinical Genetics, 2015

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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."