Variation in a Repeat Sequence Determines Whether a Common Variant of the Cystic Fibrosis Transmembrane Conductance Regulator Gene Is Pathogenic or Benign

Joshua D. Groman, Timothy W. Hefferon, Teresa Casals, Lluís Bassas, Xavier Estivill, Marie Des Georges, Caroline Guittard, Monika Koudova, M. Daniele Fallin, Krisztina Nemeth, Gyorgy Fekete, Ludovit Kadasi, Ken Friedman, Martin Schwarz, Cristina Bombieri, Pier Franco Pignatti, Emmanuel Kanavakis, Maria Tzetis, Marianne Schwartz, Giuseppe NovelliMaria Rosaria D'Apice, Agnieszka Sobczynska-Tomaszewska, Jerzy Bal, Manfred Stuhrmann, Milan Macek, Mireille Claustres, Garry R. Cutting

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

202 Scopus citations

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Medicine & Life Sciences