Varaico: Literature-Extracted Genetic Variants

Gene:KIT
Variant:p.F508del1
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KIT

NM_000222.3:p.F508del1

Associated Papers

Innovative all-in-one exome sequencing strategy for diagnostic genetic testing in male infertility: Validation and 10-month experience.

Oud MS et al.

Andrology, 2025

39180390 (PubMed )
Supplement: ANDR-13-1078-s002.xlsx › Table_SI

miRNA-target gene network analysis in siblings with cystic fibrosis and phenotypic variability.

Mustafaoğlu A et al.

Turkish Journal of Medical Sciences, 2025

Two Years of Newborn Screening for Cystic Fibrosis in North Macedonia: First Experience.

Fustik S et al.

Balkan Journal of Medical Genetics : Bjmg, 2021

Differentially expressed genes associated with disease severity in siblings with cystic fibrosis.

Ekinci İB et al.

Pediatric Pulmonology, 2021

Cystic Fibrosis Mutation Spectrum in North Macedonia: A Step Toward Personalized Therapy.

Terzic M et al.

Balkan Journal of Medical Genetics : Bjmg, 2019

Molecular Analysis of Cystic Fibrosis Patients in Hungary - An Update to the Mutational Spectrum.

Ivády G et al.

Journal of Medical Biochemistry, 2015

A high frequency of the Cystic Fibrosis 2184insA mutation in Western Ukraine: genotype-phenotype correlations, relevance for newborn screening and genetic testing.

Makukh H et al.

Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2010

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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."