Varaico: Literature-Extracted Genetic Variants

Gene:ABCB4
Variant:p.R928Splc
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ABCB4

NM_000443.4:p.R928Splc

Associated Papers

Identification of novel ABCB4 variants and genotype-phenotype correlation in progressive familial intrahepatic cholestasis type 3.

Wang S et al.

Scientific Reports, 2024

39521930 (PubMed )
Supplement: 41598_2024_79123_MOESM1_ESM.pdf

[Clinical and genetic analysis of cases of progressive familial intrahepatic cholestasis type 3].

Shen YL et al.

Zhonghua Gan Zang Bing Za Zhi = Zhonghua Ganzangbing Zazhi = Chinese Journal of Hepatology, 2023

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