Publications:

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A bipartite graph-based expected networks approach identifies DDR genes not associated with TMB yet predictive of immune checkpoint blockade response.

Cell Reports. Medicine

Weir, William H WH; Mucha, Peter J PJ; Kim, William Y WY

Publication Date: 2022-05-17

Variant appearance in text: CFTR: 1648G>A; Gly550Arg

PubMed Link: 35584624

Variant Present in the following documents:

• mmc2.xlsx, sheet 4

View BVdb publication page

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Frequency of allele variations in the CFTR gene in a Mexican population.

Bmc Medical Genomics

Cantú-Reyna, Consuelo C; Galindo-Ramírez, Roberto R; Vázquez-Cantú, Mercedes M; Haddad-Talancón, Lorenza L; García-Muñoz, Willebaldo W

Publication Date: 2021-11-05

Variant appearance in text: rs397508247

PubMed Link: 34740355

Variant Present in the following documents:

• 12920_2021_1111_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics

Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM

Publication Date: 2020-12

Variant appearance in text: CFTR: 1648G>A; G550R

PubMed Link: 33230298

Variant Present in the following documents:

• NIHMS1637640-supplement-SuppData1.xlsx, sheet 1

View BVdb publication page

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Integrative molecular and clinical modeling of clinical outcomes to PD1 blockade in patients with metastatic melanoma.

Nature Medicine

Liu, David D; Schilling, Bastian B; Liu, Derek D; Sucker, Antje A; Livingstone, Elisabeth E; Jerby-Arnon, Livnat L; Zimmer, Lisa L; Gutzmer, Ralf R; Satzger, Imke I; Loquai, Carmen C; Grabbe, Stephan S; Vokes, Natalie N; Margolis, Claire A CA; Conway, Jake J; He, Meng Xiao MX; Elmarakeby, Haitham H; Dietlein, Felix F; Miao, Diana D; Tracy, Adam A; Gogas, Helen H; Goldinger, Simone M SM; Utikal, Jochen J; Blank, Christian U CU; Rauschenberg, Ricarda R; von Bubnoff, Dagmar D; Krackhardt, Angela A; Weide, Benjamin B; Haferkamp, Sebastian S; Kiecker, Felix F; Izar, Ben B; Garraway, Levi L; Regev, Aviv A; Flaherty, Keith K; Paschen, Annette A; Van Allen, Eliezer M EM; Schadendorf, Dirk D

Publication Date: 2019-12

Variant appearance in text: CFTR: 1648G>A

PubMed Link: 31792460

Variant Present in the following documents:

• 41591_2019_654_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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ATP and AMP mutually influence their interaction with the ATP-binding cassette (ABC) adenylate kinase cystic fibrosis transmembrane conductance regulator (CFTR) at separate binding sites.

The Journal Of Biological Chemistry

Randak, Christoph O CO; Dong, Qian Q; Ver Heul, Amanda R AR; Elcock, Adrian H AH; Welsh, Michael J MJ

Publication Date: 2013-09-20

Variant appearance in text: CFTR: G550R

PubMed Link: 23921386

Variant Present in the following documents:

• Main text

View BVdb publication page

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Functional Rescue of F508del-CFTR Using Small Molecule Correctors.

Frontiers In Pharmacology

Molinski, Steven S; Eckford, Paul D W PD; Pasyk, Stan S; Ahmadi, Saumel S; Chin, Stephanie S; Bear, Christine E CE

Publication Date: 2012

Variant appearance in text: CFTR: G550R

PubMed Link: 23055971

Variant Present in the following documents:

• Main text
• fphar-03-00160.pdf

View BVdb publication page

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Phenotype-optimized sequence ensembles substantially improve prediction of disease-causing mutation in cystic fibrosis.

Human Mutation

Masica, David L DL; Sosnay, Patrick R PR; Cutting, Garry R GR; Karchin, Rachel R

Publication Date: 2012-08

Variant appearance in text: CFTR: G550R

PubMed Link: 22573477

Variant Present in the following documents:

• Main text

View BVdb publication page

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