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- Title
Comprehensive genotyping reveals novel CFTR variants in cystic fibrosis patients from the Russian Federation.
- Authors
Petrova, Nika V.; Marakhonov, Andrey V.; Vasilyeva, Tatiana A.; Kashirskaya, Natalya Y.; Ginter, Evgeny K.; Kutsev, Sergey I.; Zinchenko, Rena A.
- Abstract
Single nucleotide variants are represented as lines. The height of the line corresponds to the allele frequency. Gross chromosomal copy number variations are shown as arrows. Color corresponds to the mutation type. Complex alleles represented with a clip. Previously reported variants are located above the schematic gene representation. Their names are presented in Table 1 in main text. Novel variants are depicted beneath the schematic gene representation.
- Subjects
RUSSIA; GENOTYPES; CYSTIC fibrosis transmembrane conductance regulator; CYSTIC fibrosis gene; MUTANT proteins; ALLELES; DNA copy number variations
- Publication
Clinical Genetics, 2019, Vol 95, Issue 3, p444
- ISSN
0009-9163
- Publication type
Article
- DOI
10.1111/cge.13477