Varaico: Literature-Extracted Genetic Variants

Gene:MYO5B
Variant:p.Q635_F636Splc
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MYO5B

NM_001080467.3:p.Q635_F636Splc

Associated Papers

The Genetic Architecture of Congenital Diarrhea and Enteropathy.

Gaibee Z et al.

The New England Journal of Medicine, 2025

40174224 (PubMed )
Supplement: NIHMS2042924-supplement-supp_table_8.xlsx › Variant_Summary_table

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

Villin immunohistochemistry is a reliable method for diagnosing microvillus inclusion disease.

Shillingford NM et al.

The American Journal of Surgical Pathology, 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."