ABCC7 p.Glu379*

ClinVar: c.1135G>T , p.Glu379* ? , not provided
c.1135G>A , p.Glu379Lys ? , not provided
CF databases: c.1135G>A , p.Glu379Lys (CFTR1) D , This mutation was detected by DGGE and identified by DNA fluorescent sequencing in a CBAVD patient from Southern France, who carried the D443Y mutation in trans.

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[hide] Lucarelli M, Bruno SM, Pierandrei S, Ferraguti G, Stamato A, Narzi F, Amato A, Cimino G, Bertasi S, Quattrucci S, Strom R
A Genotypic-Oriented View of CFTR Genetics Highlights Specific Mutational Patterns Underlying Clinical Macrocategories of Cystic Fibrosis.
Mol Med. 2015 Apr 21;21:257-75. doi: 10.2119/molmed.2014.00229., [PMID:25910067]

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