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The phenotype of compound heterozygous BSEP deficiency patients is determined by the combined residual function of the two ABCB11 mutations: results from the NAPPED consortiumAntonia Felzen, Mathias Ruiz, Daan van Wessel et al.|Journal of Hepatology|2020Cited by 1
Genotype-phenotype relationships in patients with relatively mild mutations in abcb11 : Results from the napped consortium.Daan van Wessel, Henkjan J. Verkade, Richard J. Thompson et al.|Hepatology|2019Cited by 0
THE PRESENCE OF A TRUNCATING MUTATION IN ABCB11 ABROGATES THE BENEFICIAL EFFECT OF A RESIDUAL FUNCTION MUTATION ON THE COURSE OF SEVERE BILE SALT EXPORT PUMP DEFICIENCYAntonia Felzen, Mara Cananzi, Daan van Wessel et al.|University of Groningen research database (University of Groningen / Centre for Information Technology)|2020Cited by 0