Varaico: Literature-Extracted Genetic Variants

Gene:MYO5B
Variant:p.H138Q
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MYO5B

NM_001080467.3:p.H138Q

Associated Papers

Congenital Diarrhea and Cholestatic Liver Disease: Phenotypic Spectrum Associated with MYO5B Mutations.

Aldrian D et al.

Journal of Clinical Medicine, 2021

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

Abnormal Rab11-Rab8-vesicles cluster in enterocytes of patients with microvillus inclusion disease.

Vogel GF et al.

Traffic (copenhagen, Denmark), 2017

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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."