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Joshua D. Groman

Johns Hopkins University

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Mutations in the beta-subunit of the epithelial Na+ channel in patients with a cystic fibrosis-like syndrome

2005 Human Molecular Genetics
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A variable dinucleotide repeat in the CFTR gene contributes to phenotype diversity by forming RNA secondary structures that alter splicing.

2004 Proceedings of the National Academy of Sciences of the United States of America
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Variation in a Repeat Sequence Determines Whether a Common Variant of the Cystic Fibrosis Transmembrane Conductance Regulator Gene Is Pathogenic or Benign

2004 American Journal of Human Genetics
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