Complex assessment of pathogenicity of novel variant c.516G > C (p.Trp172Cys) in the GJB2 gene associated with hearing loss in indigenous peoples of Southern Siberia (Russia)

E. A. Maslova; M. V. Zytsar; V. Y. Danilchenko; K. E. Orishchenko; O. L. Posukh

doi:10.1038/s41431-020-00739-z

Complex assessment of pathogenicity of novel variant c.516G > C (p.Trp172Cys) in the GJB2 gene associated with hearing loss in indigenous peoples of Southern Siberia (Russia)

E. A. Maslova, M. V. Zytsar, V. Y. Danilchenko, K. E. Orishchenko, O. L. Posukh

Результат исследования: Научные публикации в периодических изданиях › тезисы › рецензирование

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
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	https://doi.org/10.1038/s41431-020-00739-z
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

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10.1038/s41431-020-00739-z

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Maslova, E. A., Zytsar, M. V., Danilchenko, V. Y., Orishchenko, K. E., & Posukh, O. L. (2020). Complex assessment of pathogenicity of novel variant c.516G > C (p.Trp172Cys) in the GJB2 gene associated with hearing loss in indigenous peoples of Southern Siberia (Russia). European journal of human genetics, 28(Suppl 1), 191-192. [P02.27.B]. https://doi.org/10.1038/s41431-020-00739-z

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title = "Complex assessment of pathogenicity of novel variant c.516G > C (p.Trp172Cys) in the GJB2 gene associated with hearing loss in indigenous peoples of Southern Siberia (Russia)",

abstract = "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).",

author = "Maslova, {E. A.} and Zytsar, {M. V.} and Danilchenko, {V. Y.} and Orishchenko, {K. E.} and Posukh, {O. L.}",

note = "Study was supported by Project #0324-2019-0041-C-01 and RFBR grant #17-29-06016_ofi-m.; 53rd Conference of the European-Society-of-Human-Genetics (ESHG), ESHG ; Conference date: 06-06-2020 Through 09-06-2020",

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doi = "10.1038/s41431-020-00739-z",

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Maslova, EA, Zytsar, MV, Danilchenko, VY, Orishchenko, KE & Posukh, OL 2020, 'Complex assessment of pathogenicity of novel variant c.516G > C (p.Trp172Cys) in the GJB2 gene associated with hearing loss in indigenous peoples of Southern Siberia (Russia)', European journal of human genetics, том. 28, № Suppl 1, P02.27.B, стр. 191-192. https://doi.org/10.1038/s41431-020-00739-z

Complex assessment of pathogenicity of novel variant c.516G > C (p.Trp172Cys) in the GJB2 gene associated with hearing loss in indigenous peoples of Southern Siberia (Russia). / Maslova, E. A.; Zytsar, M. V.; Danilchenko, V. Y. и др.

В: European journal of human genetics, Том 28, № Suppl 1, P02.27.B, 01.12.2020, стр. 191-192.

Результат исследования: Научные публикации в периодических изданиях › тезисы › рецензирование

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