Publications:

The pathogenic c.1171A>G (p.Arg391Gly) and c.2359G>A (p.Val787Ile) ABCC6 variants display incomplete penetrance causing pseudoxanthoma elasticum in a subset of individuals.

Human Mutation

Szeri, Flora F; Miko, Agnes A; Navasiolava, Nastassia N; Kaposi, Ambrus A; Verschuere, Shana S; Molnar, Beatrix B; Li, Qiaoli Q; Terry, Sharon F SF; Boraldi, Federica F; Uitto, Jouni J; van de Wetering, Koen K; Martin, Ludovic L; Quaglino, Daniela D; Vanakker, Olivier M OM; Tory, Kalman K; Aranyi, Tamas T

Publication Date: 2022-11-01

Variant appearance in text: CFTR: 793A>G

PubMed Link: 36317459

Variant Present in the following documents:

• HUMU-43-1872.pdf

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Downstream Alternate Start Site Allows N-Terminal Nonsense Variants to Escape NMD and Results in Functional Recovery by Readthrough and Modulator Combination.

Journal Of Personalized Medicine

Bowling, Alyssa A; Eastman, Alice A; Merlo, Christian C; Lin, Gabrielle G; West, Natalie N; Patel, Shivani S; Cutting, Garry G; Sharma, Neeraj N

Publication Date: 2022-09-01

Variant appearance in text: CFTR: M265V

PubMed Link: 36143233

Variant Present in the following documents:

• Main text
• jpm-12-01448.pdf

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Cystic fibrosis transmembrane conductance regulator-associated ATP release is controlled by a chloride sensor.

The Journal Of Cell Biology

Jiang, Q Q; Mak, D D; Devidas, S S; Schwiebert, E M EM; Bragin, A A; Zhang, Y Y; Skach, W R WR; Guggino, W B WB; Foskett, J K JK; Engelhardt, J F JF

Publication Date: 1998-11-02

Variant appearance in text: CFTR: M265V

PubMed Link: 9813087

Variant Present in the following documents:

• Main text
• 9806080.pdf

View BVdb publication page