Varaico: Literature-Extracted Genetic Variants

Gene:DMBT1
Variant:p.N1303K
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DMBT1

NM_001377530.1:p.N1303K

Associated Papers

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

Fustik S et al.

Balkan Journal of Medical Genetics : Bjmg, 2021

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

Terzic M et al.

Balkan Journal of Medical Genetics : Bjmg, 2019

Pancreatic Insufficiency in Cystic Fibrosis: Influence of Inflammatory Response Genes.

Marson FAL et al.

Pancreas, 2018

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

A novel approach to CFTR mutation testing by pyrosequencing-based assay panels adapted to ethnicities.

Bickmann JK et al.

Clinical Chemistry, 2009

Variants in the interleukin 8 gene and the response to inhaled bronchodilators in cystic fibrosis.

Furlan LL et al.

Jornal De Pediatria, 0

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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."