Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.E1321_V1322Splc
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CFTR

NM_000492.4:p.E1321_V1322Splc

Associated Papers

Sequencing as a first-line methodology for cystic fibrosis carrier screening.

Beauchamp KA et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

31036917 (PubMed )
Supplement: 41436_2019_525_MOESM3_ESM.xlsx › Sheet1

Comparison of Lung Clearance Index and Magnetic Resonance Imaging for Assessment of Lung Disease in Children with Cystic Fibrosis.

Stahl M et al.

American Journal of Respiratory and Critical Care Medicine, 2017

27575911 (PubMed )
Supplement: stahl_data_supplement.pdf
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