Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.D537E
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CFTR

NM_000492.4:p.D537E

Associated Papers

Rescue of Rare CFTR Trafficking Mutants Highlights a Structural Location-Dependent Pattern for Correction.

Zacarias S et al.

International Journal of Molecular Sciences, 2023

36834620 (PubMed )
Supplement: ijms-24-03211-s001.zip › ijms-2071953-supplementary.pdf

The use of DHPLC (Denaturing High Performance Liquid Chromatography) in II level screening of the CFTR gene in Prenatal Diagnosis.

Mesoraca A et al.

Journal of Prenatal Medicine, 2010

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