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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CFTR

Variant:p.S728_D729insFs

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CFTR

NM_000492.4:p.S728_D729insFs

hg38:chr7:117592351 T>TAA

Associated Papers

Functional rescue of CFTR in rectal organoids from patients carrying R334W variant by CFTR modulators and PDE4 inhibitor Roflumilast.

Latorre RV et al.

Respiratory Investigation, 2024

38547757 (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."