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: rs397508470

PubMed Link: 34740355

Variant Present in the following documents:

• 12920_2021_1111_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

Recommendation of premarital genetic screening in the Syrian Jewish community based on mutation carrier frequencies within Syrian Jewish cohorts.

Molecular Genetics & Genomic Medicine

Zeevi, David A DA; Chung, Wendy K WK; Levi, Chaim C; Scher, Sholem Y SY; Bringer, Rachel R; Kahan, Yael Y; Muallem, Hagit H; Benel, Rinat R; Hirsch, Yoel Y; Weiden, Tzvi T; Ekstein, Ahron A; Ekstein, Josef J

Publication Date: 2021-08

Variant appearance in text: rs397508470

PubMed Link: 34288589

Variant Present in the following documents:

• Main text
• MGG3-9-e1756.pdf

View BVdb publication page

Recommendation of premarital genetic screening in the Syrian Jewish community based on mutation carrier frequencies within Syrian Jewish cohorts.

Molecular Genetics & Genomic Medicine

Zeevi, David A DA; Chung, Wendy K WK; Levi, Chaim C; Scher, Sholem Y SY; Bringer, Rachel R; Kahan, Yael Y; Muallem, Hagit H; Benel, Rinat R; Hirsch, Yoel Y; Weiden, Tzvi T; Ekstein, Ahron A; Ekstein, Josef J

Publication Date: 2021-08

Variant appearance in text: rs397508470

PubMed Link: 34288589

Variant Present in the following documents:

• Main text
• MGG3-9-e1756.pdf

View BVdb publication page

The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine

Xiao, Qingyang Q; Lauschke, Volker M VM

Publication Date: 2021-06-02

Variant appearance in text: CFTR: 2989-1G>A; rs397508470

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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: 2989-1G>A; rs397508470

PubMed Link: 28957316

Variant Present in the following documents:

• pgen.1006915.s002.xlsx, sheet 1

View BVdb publication page