A new missense mutation (E92K) in the first transmembrane domain of the CFTR gene causes a benign cystic fibrosis phenotype.

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Nunes V, Chillon M, Dork T, Tummler B, Casals T, Estivill X

A new missense mutation (E92K) in the first transmembrane domain of the CFTR gene causes a benign cystic fibrosis phenotype.

Hum Mol Genet. 1993 Jan;2(1):79-80.

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7683954 [ View in PubMed
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Polypeptides
NameUniProt ID
Cystic fibrosis transmembrane conductance regulatorP13569Details