Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.G91_E92Splc
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CFTR

NM_000492.4:p.G91_E92Splc

Associated Papers

Elexacaftor-tezacaftor-ivacaftor in people with cystic fibrosis harbouring two CFTR Class I variants: real-world data from the French compassionate programme.

Burgel PR et al.

Eclinicalmedicine, 2025

40932846 (PubMed )
Supplement: mmc2.xlsx › TRUE

Spectrum of RB1 gene mutations and loss of heterozygosity in Mexican patients with retinoblastoma: identification of six novel mutations.

Macías M et al.

Cancer Biomarkers : Section a of Disease Markers, 2008

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."