Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.Y577H
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CFTR

NM_000492.4:p.Y577H

Associated Papers

Array genotyping as diagnostic approach in medical genetics.

Witsch-Baumgartner M et al.

Molecular Genetics & Genomic Medicine, 2022

35912641 (PubMed )
Supplement: MGG3-10-e2016-s001.docx

Current Status of Genetic Diagnosis Laboratories and Frequency of Genetic Variants Associated with Cystic Fibrosis through a Newborn-Screening Program in Turkey.

Bozdogan ST et al.

Genes, 2021

Identification of novel mutations in Arabs with cystic fibrosis and their impact on the cystic fibrosis transmembrane regulator mutation detection rate in Arab populations.

Kambouris M et al.

European Journal of Pediatrics, 2000

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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."