Varaico: Literature-Extracted Genetic Variants

Gene:MYO5B
Variant:p.E82K
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MYO5B

NM_001080467.3:p.E82K

Associated Papers

MYO5B Deficiency-Associated Cholestasis and the Role of the Bile Salt Export Pump.

Zhou Z et al.

Cells, 2026

41511375 (PubMed )
Supplement: cells-15-00092-s001.zip › cells-4027592-supplementary › PFIC10_supplemental_final_TableS1_R.xlsx › Sheet1

Odevixibat therapy in progressive familial intrahepatic cholestasis with MYO5B variants: a retrospective case series.

Roquelaure B et al.

Orphanet Journal of Rare Diseases, 2025

Microvillus Inclusion Disease Caused by MYO5B: Different Presentation and Phenotypes Despite Same Mutation.

Andreassen BU et al.

Jpgn Reports, 2023

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

Aldrian D et al.

Journal of Clinical Medicine, 2021

Mutations in Myosin 5B in Children With Early-onset Cholestasis.

Cockar I et al.

Journal of Pediatric Gastroenterology and Nutrition, 2020

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."