Publications:

Capitalizing on the heterogeneous effects of CFTR nonsense and frameshift variants to inform therapeutic strategy for cystic fibrosis.

Plos Genetics

Sharma, Neeraj N; Evans, Taylor A TA; Pellicore, Matthew J MJ; Davis, Emily E; Aksit, Melis A MA; McCague, Allison F AF; Joynt, Anya T AT; Lu, Zhongzhu Z; Han, Sangwoo T ST; Anzmann, Arianna F AF; Lam, Anh-Thu N AN; Thaxton, Abigail A; West, Natalie N; Merlo, Christian C; Gottschalk, Laura B LB; Raraigh, Karen S KS; Sosnay, Patrick R PR; Cotton, Calvin U CU; Cutting, Garry R GR

Publication Date: 2018-11

Variant appearance in text: CFTR: S1206X

PubMed Link: 30444886

Variant Present in the following documents:

• Main text
• pgen.1007723.pdf

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A Genotypic-Oriented View of CFTR Genetics Highlights Specific Mutational Patterns Underlying Clinical Macrocategories of Cystic Fibrosis.

Molecular Medicine (Cambridge, Mass.)

Lucarelli, Marco M; Bruno, Sabina Maria SM; Pierandrei, Silvia S; Ferraguti, Giampiero G; Stamato, Antonella A; Narzi, Fabiana F; Amato, Annalisa A; Cimino, Giuseppe G; Bertasi, Serenella S; Quattrucci, Serena S; Strom, Roberto R

Publication Date: 2015-04-21

Variant appearance in text: CFTR: 3617C>A; S1206X

PubMed Link: 25910067

Variant Present in the following documents:

• Main text

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CFTR mutations spectrum and the efficiency of molecular diagnostics in Polish cystic fibrosis patients.

Plos One

Ziętkiewicz, Ewa E; Rutkiewicz, Ewa E; Pogorzelski, Andrzej A; Klimek, Barbara B; Voelkel, Katarzyna K; Witt, Michał M

Publication Date: 2014

Variant appearance in text: CFTR: 3617C>A; S1206X

PubMed Link: 24586523

Variant Present in the following documents:

• Main text
• pone.0089094.pdf

View BVdb publication page