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Biallelic loss-of-function ZFYVE19 mutations are associated with congenital hepatic fibrosis, sclerosing cholangiopathy and high-GGT cholestasis.

Luan W, Hao CZ, Li JQ, Wei Q, Gong JY, Qiu YL, Lu Y, Shen CH, Xia Q, Xie XB, Zhang MH, Abuduxikuer K, Li ZD, Wang L, Xing QH, Knisely AS, Wang JS. Biallelic loss-of-function ZFYVE19 mutations are associated with congenital hepatic fibrosis, sclerosing cholangiopathy and high-GGT cholestasis. J Med Genet. 2021 08; 58(8):514-525.

View in: PubMed