Varaico: Literature-Extracted Genetic Variants

Gene:MYO5B
Variant:p.H81R
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MYO5B

NM_001080467.3:p.H81R

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

Advanced Microscopy for Liver and Gut Ultrastructural Pathology in Patients with MVID and PFIC Caused by MYO5B Mutations.

Hess MW et al.

Journal of Clinical Medicine, 2021

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

Aldrian D et al.

Journal of Clinical Medicine, 2021

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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."