Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.R1239_V1240Splc
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CFTR

NM_000492.4:p.R1239_V1240Splc

Associated Papers

Cystic Fibrosis Screen Positive, Inconclusive Diagnosis Genotypes in People with Cystic Fibrosis from the U.S. Patient Registry.

Salinas DB et al.

Annals of the American Thoracic Society, 2023

36409994 (PubMed )
Supplement: salinas_data_supplement.pdf

Cystic Fibrosis in the African Diaspora.

Stewart C et al.

Annals of the American Thoracic Society, 2017

Identification of cystic fibrosis variants by polymerase chain reaction/oligonucleotide ligation assay.

Schwartz KM et al.

The Journal of Molecular Diagnostics : Jmd, 2009

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