ABCC7 p.Leu165*

ClinVar: c.494T>C , p.Leu165Ser ? , not provided
CF databases: c.494T>C , p.Leu165Ser (CFTR1) ? , The patient is 20 years old, pancreatic insufficient, and the second chromosome carries the [delta]F508.

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[hide] Zietkiewicz E, Rutkiewicz E, Pogorzelski A, Klimek B, Voelkel K, Witt M
CFTR mutations spectrum and the efficiency of molecular diagnostics in Polish cystic fibrosis patients.
PLoS One. 2014 Feb 26;9(2):e89094. doi: 10.1371/journal.pone.0089094. eCollection 2014., [PMID:24586523]

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