Аннотация
Assessment of pathogenicity of novel variants is a primary task for molecular diagnostics of hereditary diseases. Mutations in gene GJB2 encoding transmembrane protein Cx26 are the common cause for hearing loss worldwide. We present a complex assessment of pathogenicity of novel non-synonymous variant c.516G>C (p.Trp172Cys) in GJB2 found with high frequency in deaf patients belonging to indigenous peoples of Southern Siberia (Tuvinians and Altaians).
Язык оригинала | английский |
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Номер статьи | P02.27.B |
Страницы (с-по) | 191-192 |
Число страниц | 2 |
Журнал | European journal of human genetics |
Том | 28 |
Номер выпуска | Suppl 1 |
DOI | |
Состояние | Опубликовано - 1 дек 2020 |
Событие | 53rd Conference of the European-Society-of-Human-Genetics (ESHG) - Virtual Conference Продолжительность: 6 июн 2020 → 9 июн 2020 Номер конференции: 53 |