Varaico: Literature-Extracted Genetic Variants

Gene:MYO5B
Variant:p.S449delFs
Back to variants list

MYO5B

NM_001080467.3:p.S449delFs

Associated Papers

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

Aldrian D et al.

Journal of Clinical Medicine, 2021

Unequal Effects of Myosin 5B Mutations in Liver and Intestine Determine the Clinical Presentation of Low-Gamma-Glutamyltransferase Cholestasis.

van IJzendoorn SCD et al.

Hepatology (baltimore, Md.), 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

Microvillous atrophy: atypical presentations.

Perry A et al.

Journal of Pediatric Gastroenterology and Nutrition, 2014

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."