Varaico: Literature-Extracted Genetic Variants

Gene:ABCB4
Variant:p.L158Q
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ABCB4

NM_000443.4:p.L158Q

Associated Papers

Novel ABCB4 mutation in a female patient with progressive familial intrahepatic cholestasis type 3: a case report and literature review.

Sharabati I et al.

Annals of Medicine and Surgery (2012), 2025

[Analysis of clinical characteristic of children with progressive familial intrahepatic cholestasis type 3].

Cao LL et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2024

Clinical and genetic study of ABCB4 gene-related cholestatic liver disease in China: children and adults.

Cao L et al.

Orphanet Journal of Rare Diseases, 2024

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