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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CFTR

Variant:p.Q552fs

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CFTR

NM_000492.4:p.Q552fs

hg38:chr7:117587808 C>CN

Associated Papers

Genetic Variants and Clinical Characteristics in the Diagnosis of Children Aged Under 18 Years With Cystic Fibrosis in a Brazilian State.

Arpini LDSB et al.

Pediatric Pulmonology, 2025

40105401 (PubMed )

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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."