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Genotype-phenotype relationships of truncating mutations, p.E297G and p.D482G in bile salt export pump deficiency.
JHEP Rep. 2022 Nov 16;5(2):100626. doi: 10.1016/j.jhepr.2022.100626. eCollection 2023 Feb.
JHEP Rep. 2022.
PMID: 36687469
Free PMC article.
The spectrum of Progressive Familial Intrahepatic Cholestasis diseases: Update on pathophysiology and emerging treatments.
Felzen A, Verkade HJ.
Felzen A, et al.
Eur J Med Genet. 2021 Nov;64(11):104317. doi: 10.1016/j.ejmg.2021.104317. Epub 2021 Aug 31.
Eur J Med Genet. 2021.
PMID: 34478903
Review.
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