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Comprehensive genotyping reveals novel CFTR variants in cystic fibrosis patients from the Russian Federation
Author(s) -
Petrova Nika V.,
Marakhonov Andrey V.,
Vasilyeva Tatiana A.,
Kashirskaya Natalya Y.,
Ginter Evgeny K.,
Kutsev Sergey I.,
Zinchenko Rena A.
Publication year - 2019
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.13477
Subject(s) - genotyping , genetics , allele , schematic , biology , cystic fibrosis , gene , mutation , allele frequency , representation (politics) , haplotype , genotype , electronic engineering , engineering , politics , law , political science
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.