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Genotype-phenotype relationships of truncating mutations, p.E297G and p.D482G in bile salt export pump deficiency

Research output: Contribution to journal › Article › Academic › peer-review

the NAtural course and Prognosis of PFIC and Effect of biliary Diversion (NAPPED) Consortium

BSEP, PFIC2, compound heterozygosity, genotype, interruption of the enterohepatic circulation, phenotype

ID: 31714926