Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.P1050Q
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CFTR

NM_000492.4:p.P1050Q

Associated Papers

Identification and Characterization of a Rare Exon 22 Duplication in CFTR in Two Families.

Ahting S et al.

International Journal of Molecular Sciences, 2025

40429633 (PubMed )
Supplement: ijms-26-04487-s001.zip › CFTR2_25September2024.xlsx › CFTR2_variants_by_legacy_name

Clinical hallmarks and genetic polymorphisms in the CFTR gene contribute to the disclosure of the A1006E mutation.

Tomaiuolo AC et al.

Clinical and Investigative Medicine. Medecine Clinique Et Experimentale, 2010

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