Publications:

Clinical and Genetic Characterisation of Cystic Fibrosis Patients in Latvia: A Twenty-Five-Year Experience.

Diagnostics (Basel, Switzerland)

Auzenbaha, Madara M; Aleksejeva, Elina E; Taurina, Gita G; Kornejeva, Liene L; Kempa, Inga I; Svabe, Vija V; Gailite, Linda L

Publication Date: 2022-11-21

Variant appearance in text: CFTR: 169T>C; Trp57Arg

PubMed Link: 36428953

Variant Present in the following documents:

• Main text
• diagnostics-12-02893.pdf

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Molecular dynamics and functional characterization of I37R-CFTR lasso mutation provide insights into channel gating activity.

Iscience

Wong, Sharon L SL; Awatade, Nikhil T NT; Astore, Miro A MA; Allan, Katelin M KM; Carnell, Michael J MJ; Slapetova, Iveta I; Chen, Po-Chia PC; Capraro, Alexander A; Fawcett, Laura K LK; Whan, Renee M RM; Griffith, Renate R; Ooi, Chee Y CY; Kuyucak, Serdar S; Jaffe, Adam A; Waters, Shafagh A SA

Publication Date: 2022-01-21

Variant appearance in text: CFTR: 169T>C; Trp57Arg

PubMed Link: 35072004

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

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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: 169T>C; Trp57Arg; rs397508272

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1

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What can the CF registry tell us about rare CFTR-mutations? A Belgian study.

Orphanet Journal Of Rare Diseases

De Wachter, E E; Thomas, M M; Wanyama, S S SS; Seneca, S S; Malfroot, A A

Publication Date: 2017-08-22

Variant appearance in text: CFTR: W57R

PubMed Link: 28830496

Variant Present in the following documents:

• Main text
• 13023_2017_Article_694.pdf

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Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures.

American Journal Of Human Genetics

Zhang, Xiaochang X; Ling, Jiqiang J; Barcia, Giulia G; Jing, Lili L; Wu, Jiang J; Barry, Brenda J BJ; Mochida, Ganeshwaran H GH; Hill, R Sean RS; Weimer, Jill M JM; Stein, Quinn Q; Poduri, Annapurna A; Partlow, Jennifer N JN; Ville, Dorothée D; Dulac, Olivier O; Yu, Tim W TW; Lam, Anh-Thu N AT; Servattalab, Sarah S; Rodriguez, Jacqueline J; Boddaert, Nathalie N; Munnich, Arnold A; Colleaux, Laurence L; Zon, Leonard I LI; Söll, Dieter D; Walsh, Christopher A CA; Nabbout, Rima R

Publication Date: 2014-04-03

Variant appearance in text: CFTR: 169T>C

PubMed Link: 24656866

Variant Present in the following documents:

• Main text

View BVdb publication page