Varaico: Literature-Extracted Genetic Variants

Gene:MYO5B
Variant:p.Y654C
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MYO5B

NM_001080467.3:p.Y654C

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

Compound Heterozygous MYO5B Mutation, a Cause of Infantile Cholestasis: A Case Report.

Khanal M et al.

Jnma; Journal of the Nepal Medical Association, 2022

MYO5B Gene Mutations: A Not Negligible Cause of Intrahepatic Cholestasis of Infancy With Normal Gamma-Glutamyl Transferase Phenotype.

Matarazzo L et al.

Journal of Pediatric Gastroenterology and Nutrition, 2022

Novel Variations in MYO5B Presenting as Isolated Intrahepatic Cholestasis: Long-Term Outcome after Partial Internal Biliary Diversion.

Lal BB et al.

Indian Journal of Pediatrics, 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."