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Sylvia Schucht
Sylvia Schucht
University of Göttingen
Genotype
Phenotype
Cystic fibrosis
Genetics
Functional analysis
2
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1
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Clinical presentation and basic defect of the CFTR genotype p.Phe508del / p.Arg117His in a mother and her monozygous twin daughters.
2021
Journal of Cystic Fibrosis
Christiane Lex
Rebecca Minso
Nadine Alfeis
Hendrik Rosewich
Sylvia Schucht
Burkhard Tümmler
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Functional analysis of the p.[Arg74Trp;Val201Met;Asp1270Asn]/p.Phe508del CFTR mutation genotype in human native colon
2019
Molecular Genetics & Genomic Medicine
Sylvia Schucht
Rebecca Minso
Christiane Lex
Jochen Reiss
Frauke Stanke
Stephanie Tamm
Andrea van Barneveld
Burkhard Tümmler
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