Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.R55insFs
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CFTR

NM_000492.4:p.R55insFs

Associated Papers

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

Wong SL et al.

Iscience, 2022

35072004 (PubMed )
Supplement: mmc2.xlsx › Table_S1

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

De Wachter E et al.

Orphanet Journal of Rare Diseases, 2017

28830496 (PubMed )
Supplement: 13023_2017_694_MOESM1_ESM.docx
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