A cystic fibrosis transmembrane conductance regulator splice variant with partial penetrance associated with variable cystic fibrosis presentations

Eitan Kerem*, Naama Rave-Harel, Arie Augarten, Igal Madgar, Malka Nissim-Rafinia, Yaacov Yahav, Ran Goshen, Lea Bentur, Joseph Rivlin, Micha Aviram, Adnan Genem, Ornit Chiba-Falek, Mordechai R. Kraemer, Alexander Simon, David Branski, Batsheva Kerem

*Corresponding author for this work

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

75 Scopus citations

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Medicine and Dentistry

Nursing and Health Professions

Biochemistry, Genetics and Molecular Biology

Pharmacology, Toxicology and Pharmaceutical Science