Varaico: Literature-Extracted Genetic Variants

Gene:MYO5B
Variant:p.F636fs
Back to variants list

MYO5B

NM_001080467.3:p.F636fs

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

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

Aldrian D et al.

Journal of Clinical Medicine, 2021

MYO5B mutations cause cholestasis with normal serum gamma-glutamyl transferase activity in children without microvillous inclusion disease.

Gonzales E et al.

Hepatology (baltimore, Md.), 2017

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."