Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.L548Q
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CFTR

NM_000492.4:p.L548Q

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

Mid-trimester hyperechogenic bowel in a fetus of Turkish origin carrying a rarely seen mutation of cystic fibrosis.

Kazandi M et al.

Archives of Iranian Medicine, 2012

Comprehensive description of CFTR genotypes and ultrasound patterns in 694 cases of fetal bowel anomalies: a revised strategy.

de Becdelièvre A et al.

Human Genetics, 2011

Mid-trimester hyperechogenic bowel in a fetus of Japanese origin: caution in interpreting reported CFTR mutation (L548Q).

Turner CL et al.

Prenatal Diagnosis, 2006

Mid-trimester hyperechogenic bowel in a fetus of Japanese origin carrying a new mutation of CFTR gene (L548Q).

Yamamoto M et al.

Prenatal Diagnosis, 2006

Identification and functional characterization of the natural variant MRP3-Arg1297His of human multidrug resistance protein 3 (MRP3/ABCC3).

Lee YM et al.

Pharmacogenetics, 2004

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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."