Details

Autor(en) / Beteiligte

• Petrova, Nika V.
• Marakhonov, Andrey V.
• Vasilyeva, Tatiana A.
• Kashirskaya, Natalya Y.
• Ginter, Evgeny K.
• Kutsev, Sergey I.
• Zinchenko, Rena A.

Titel

Comprehensive genotyping reveals novel CFTR variants in cystic fibrosis patients from the Russian Federation

Ist Teil von

• Clinical genetics, 2019-03, Vol.95 (3), p.444-447

Ort / Verlag

Oxford, UK: Blackwell Publishing Ltd

Erscheinungsjahr

2019

Quelle

Wiley Online Library

Beschreibungen/Notizen

• 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.