Varaico: Literature-Extracted Genetic Variants

Gene:MYO5B
Variant:p.L1453F
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MYO5B

NM_001080467.3:p.L1453F

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

MYO5B-associated diseases: Novel liver-related variants and genotype-phenotype correlation.

Wang L et al.

Liver International : Official Journal of the International Association for the Study of the Liver, 2022

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