Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.I1000fs
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CFTR

NM_000492.4:p.I1000fs

Associated Papers

Beyond the 10%: Unraveling the genetic diversity in Turkish cystic fibrosis patients not eligible for CFTR modulators.

Yıldız CA et al.

Pediatric Pulmonology, 2024

Exploring Turkey's mosaic of novel variants and complex alleles in cystic fibrosis genetics.

Yıldız CA et al.

Pediatric Pulmonology, 2024

Study of the genetic and molecular epidemiology of cystic fibrosis based on the patient registry for planning targeted therapy in Russian Federation.

Kondratyeva E et al.

Frontiers in Genetics, 2024

39529847 (PubMed )
Supplement: Table1.XLSX › Supplement_1
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