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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CFTR

Variant:p.N432_S434delFs

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CFTR

NM_000492.4:p.N432_S434delFs

hg38:chr7:117548723 GTAATTTC>G

Associated Papers

Novel strategies in newborn screening for cystic fibrosis: a prospective controlled study.

Vernooij-van Langen AM et al.

Thorax, 2012

22271776 (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."