Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.R1239_V1240Splc
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CFTR

NM_000492.4:p.R1239_V1240Splc

Associated Papers

Establishment and characterization of an induced pluripotent stem cell line from a Japanese cystic fibrosis patient with homozygous 1540del10 CFTR mutation.

Okumura H et al.

Genes & Diseases, 2025

40485979 (PubMed )
Supplement: mmc2.xlsx › Supplementary_Table_1
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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."