Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.D537N
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CFTR

NM_000492.4:p.D537N

Associated Papers

Reclassifying inconclusive diagnosis after newborn screening for cystic fibrosis. Moving forward.

Hatton A et al.

Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2022

Newborn screening for cystic fibrosis: Polish 4 years' experience with CFTR sequencing strategy.

Sobczyńska-Tomaszewska A et al.

European Journal of Human Genetics : Ejhg, 2013

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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."