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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CFTR

Variant:p.E528del1

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CFTR

NM_000492.4:p.E528del1

hg38:chr7:117559652 AGAG>A

Associated Papers

Lung clearance index in children with cystic fibrosis previously diagnosed with CRMS/CFSPID: A monocentric prospective experience.

Terlizzi V et al.

Pediatric Pulmonology, 2023

37133232 (PubMed )

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