Varaico: Literature-Extracted Genetic Variants

Gene:MYO5B
Variant:p.Q252*
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MYO5B

NM_001080467.3:p.Q252*

Associated Papers

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

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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."