Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.D192del1
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CFTR

NM_000492.4:p.D192del1

Associated Papers

The expanded French compassionate programme for elexacaftor-tezacaftor-ivacaftor use in people with cystic fibrosis without a F508del CFTR variant: a real-world study.

Burgel PR et al.

The Lancet. Respiratory Medicine, 2024

Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France.

Claustres M et al.

Human Mutation, 2000

CFTR and/or pancreatitis susceptibility genes mutations as risk factors of pancreatitis in cystic fibrosis patients?

Gaitch N et al.

Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 0

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