A novel pathogenic variant c.975G>A (p.Trp325*) in the POU3F4 gene in Yakut family (Eastern Siberia, Russia) with the X-linked deafness-2 (DFNX2)

Bibliographic Details
Published in:International Journal of Pediatric Otorhinolaryngology
Main Authors: Barashkov, Nikolay A., Klarov, Leonid A., Teryutin, Fedor M., Solovyev, Aisen V., Pshennikova, Vera G., Konnikova, Edilia E., Romanov, Georgii P., Tobokhov, Alexander V., Morozov, Igor V., Bondar, Alexander A., Posukh, Olga L., Dzhemileva, Lilya U., Tomsky, Mikhail I., Khusnutdinova, Elza K., Fedorova, Sardana A.
Other Authors: Russian Foundation for Basic Research, Russian Academy of Sciences, Ministry of Education and Science of the Russian Federation
Format: Article in Journal/Newspaper
Language:English
Published: Elsevier BV 2018
Subjects:
Otorhinolaryngology
General Medicine
Pediatrics, Perinatology and Child Health
Yakut
Siberia
Online Access:http://dx.doi.org/10.1016/j.ijporl.2017.11.001
https://api.elsevier.com/content/article/PII:S016558761730544X?httpAccept=text/xml
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spelling crelsevierbv:10.1016/j.ijporl.2017.11.001 2023-05-15T18:44:32+02:00 A novel pathogenic variant c.975G>A (p.Trp325*) in the POU3F4 gene in Yakut family (Eastern Siberia, Russia) with the X-linked deafness-2 (DFNX2) Barashkov, Nikolay A. Klarov, Leonid A. Teryutin, Fedor M. Solovyev, Aisen V. Pshennikova, Vera G. Konnikova, Edilia E. Romanov, Georgii P. Tobokhov, Alexander V. Morozov, Igor V. Bondar, Alexander A. Posukh, Olga L. Dzhemileva, Lilya U. Tomsky, Mikhail I. Khusnutdinova, Elza K. Fedorova, Sardana A. Russian Foundation for Basic Research Russian Academy of Sciences Ministry of Education and Science of the Russian Federation 2018 http://dx.doi.org/10.1016/j.ijporl.2017.11.001 https://api.elsevier.com/content/article/PII:S016558761730544X?httpAccept=text/xml https://api.elsevier.com/content/article/PII:S016558761730544X?httpAccept=text/plain en eng Elsevier BV https://www.elsevier.com/tdm/userlicense/1.0/ International Journal of Pediatric Otorhinolaryngology volume 104, page 94-97 ISSN 0165-5876 Otorhinolaryngology General Medicine Pediatrics, Perinatology and Child Health journal-article 2018 crelsevierbv https://doi.org/10.1016/j.ijporl.2017.11.001 2022-11-29T17:18:12Z Article in Journal/Newspaper Yakut Siberia ScienceDirect (Elsevier - via Crossref) International Journal of Pediatric Otorhinolaryngology 104 94 97
institution Open Polar
collection ScienceDirect (Elsevier - via Crossref)
op_collection_id crelsevierbv
language English
topic Otorhinolaryngology
General Medicine
Pediatrics, Perinatology and Child Health
spellingShingle Otorhinolaryngology
General Medicine
Pediatrics, Perinatology and Child Health
Barashkov, Nikolay A.
Klarov, Leonid A.
Teryutin, Fedor M.
Solovyev, Aisen V.
Pshennikova, Vera G.
Konnikova, Edilia E.
Romanov, Georgii P.
Tobokhov, Alexander V.
Morozov, Igor V.
Bondar, Alexander A.
Posukh, Olga L.
Dzhemileva, Lilya U.
Tomsky, Mikhail I.
Khusnutdinova, Elza K.
Fedorova, Sardana A.
A novel pathogenic variant c.975G>A (p.Trp325*) in the POU3F4 gene in Yakut family (Eastern Siberia, Russia) with the X-linked deafness-2 (DFNX2)
topic_facet Otorhinolaryngology
General Medicine
Pediatrics, Perinatology and Child Health
author2 Russian Foundation for Basic Research
Russian Academy of Sciences
Ministry of Education and Science of the Russian Federation
format Article in Journal/Newspaper
author Barashkov, Nikolay A.
Klarov, Leonid A.
Teryutin, Fedor M.
Solovyev, Aisen V.
Pshennikova, Vera G.
Konnikova, Edilia E.
Romanov, Georgii P.
Tobokhov, Alexander V.
Morozov, Igor V.
Bondar, Alexander A.
Posukh, Olga L.
Dzhemileva, Lilya U.
Tomsky, Mikhail I.
Khusnutdinova, Elza K.
Fedorova, Sardana A.
author_facet Barashkov, Nikolay A.
Klarov, Leonid A.
Teryutin, Fedor M.
Solovyev, Aisen V.
Pshennikova, Vera G.
Konnikova, Edilia E.
Romanov, Georgii P.
Tobokhov, Alexander V.
Morozov, Igor V.
Bondar, Alexander A.
Posukh, Olga L.
Dzhemileva, Lilya U.
Tomsky, Mikhail I.
Khusnutdinova, Elza K.
Fedorova, Sardana A.
author_sort Barashkov, Nikolay A.
title A novel pathogenic variant c.975G>A (p.Trp325*) in the POU3F4 gene in Yakut family (Eastern Siberia, Russia) with the X-linked deafness-2 (DFNX2)
title_short A novel pathogenic variant c.975G>A (p.Trp325*) in the POU3F4 gene in Yakut family (Eastern Siberia, Russia) with the X-linked deafness-2 (DFNX2)
title_full A novel pathogenic variant c.975G>A (p.Trp325*) in the POU3F4 gene in Yakut family (Eastern Siberia, Russia) with the X-linked deafness-2 (DFNX2)
title_fullStr A novel pathogenic variant c.975G>A (p.Trp325*) in the POU3F4 gene in Yakut family (Eastern Siberia, Russia) with the X-linked deafness-2 (DFNX2)
title_full_unstemmed A novel pathogenic variant c.975G>A (p.Trp325*) in the POU3F4 gene in Yakut family (Eastern Siberia, Russia) with the X-linked deafness-2 (DFNX2)
title_sort novel pathogenic variant c.975g>a (p.trp325*) in the pou3f4 gene in yakut family (eastern siberia, russia) with the x-linked deafness-2 (dfnx2)
publisher Elsevier BV
publishDate 2018
url http://dx.doi.org/10.1016/j.ijporl.2017.11.001
https://api.elsevier.com/content/article/PII:S016558761730544X?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S016558761730544X?httpAccept=text/plain
genre Yakut
Siberia
genre_facet Yakut
Siberia
op_source International Journal of Pediatric Otorhinolaryngology
volume 104, page 94-97
ISSN 0165-5876
op_rights https://www.elsevier.com/tdm/userlicense/1.0/
op_doi https://doi.org/10.1016/j.ijporl.2017.11.001
container_title International Journal of Pediatric Otorhinolaryngology
container_volume 104
container_start_page 94
op_container_end_page 97
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