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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CFTR

Variant:p.L1253S

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CFTR

NM_000492.4:p.L1253S

hg38:chr7:117642478 T>C

Associated Papers

Biochemical assessment in a cohort of pediatric patients with cystic fibrosis.

Anghel Delia CE et al.

Journal of Medicine and Life, 2024

39296431 (PubMed )

Supplement: JMedLife-17-610-s001.pdf

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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."