Publications:

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: rs193922503

PubMed Link: 34740355

Variant Present in the following documents:

• 12920_2021_1111_MOESM1_ESM.xlsx, sheet 1

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Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics

Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM

Publication Date: 2019-10

Variant appearance in text: CFTR: 1585-8G>A; rs193922503

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

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The population genetics of human disease: The case of recessive, lethal mutations.

Plos Genetics

Amorim, Carlos Eduardo G CEG; Gao, Ziyue Z; Baker, Zachary Z; Diesel, José Francisco JF; Simons, Yuval B YB; Haque, Imran S IS; Pickrell, Joseph J; Przeworski, Molly M

Publication Date: 2017-09

Variant appearance in text: CFTR: 1585-8G>A; rs193922503

PubMed Link: 28957316

Variant Present in the following documents:

• pgen.1006915.s002.xlsx, sheet 1

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Systematic Computational Identification of Variants That Activate Exonic and Intronic Cryptic Splice Sites.

American Journal Of Human Genetics

Lee, Melissa M; Roos, Patrick P; Sharma, Neeraj N; Atalar, Melis M; Evans, Taylor A TA; Pellicore, Matthew J MJ; Davis, Emily E; Lam, Anh-Thu N AN; Stanley, Susan E SE; Khalil, Sara E SE; Solomon, George M GM; Walker, Doug D; Raraigh, Karen S KS; Vecchio-Pagan, Briana B; Armanios, Mary M; Cutting, Garry R GR

Publication Date: 2017-05-04

Variant appearance in text: rs193922503

PubMed Link: 28475858

Variant Present in the following documents:

• Main text

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