Bialelic pathogenic (c.830G>A (p.r277Q)) variant disrupting the GNE gene function and causes Nonaka myopathy phenotype

Bialelic pathogenic (c.830G>A (p.r277Q)) variant disrupting the GNE gene function and causes Nonaka myopathy phenotype

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Datum:2023
Hauptverfasser: M. Dogan, E. Akbulut, A. Gezdirici, R. Eroz, S. T. Bozdoğan
Format: Artikel
Sprache:English
Veröffentlicht: 2023
Schriftenreihe:Cytology and genetics
Online Zugang:http://jnas.nbuv.gov.ua/article/UJRN-0001434339
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Назва журналу:Library portal of National Academy of Sciences of Ukraine | LibNAS

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Library portal of National Academy of Sciences of Ukraine | LibNAS
id open-sciencenbuvgovua-110096
record_format dspace
spelling open-sciencenbuvgovua-1100962024-09-16T15:15:40Z Bialelic pathogenic (c.830G>A (p.r277Q)) variant disrupting the GNE gene function and causes Nonaka myopathy phenotype M. Dogan E. Akbulut A. Gezdirici R. Eroz S. T. Bozdoğan 0564-3783 2023 en Cytology and genetics http://jnas.nbuv.gov.ua/article/UJRN-0001434339 Article
institution Library portal of National Academy of Sciences of Ukraine | LibNAS
collection Open-Science
language English
series Cytology and genetics
spellingShingle Cytology and genetics
M. Dogan
E. Akbulut
A. Gezdirici
R. Eroz
S. T. Bozdoğan
Bialelic pathogenic (c.830G>A (p.r277Q)) variant disrupting the GNE gene function and causes Nonaka myopathy phenotype
format Article
author M. Dogan
E. Akbulut
A. Gezdirici
R. Eroz
S. T. Bozdoğan
author_facet M. Dogan
E. Akbulut
A. Gezdirici
R. Eroz
S. T. Bozdoğan
author_sort M. Dogan
title Bialelic pathogenic (c.830G>A (p.r277Q)) variant disrupting the GNE gene function and causes Nonaka myopathy phenotype
title_short Bialelic pathogenic (c.830G>A (p.r277Q)) variant disrupting the GNE gene function and causes Nonaka myopathy phenotype
title_full Bialelic pathogenic (c.830G>A (p.r277Q)) variant disrupting the GNE gene function and causes Nonaka myopathy phenotype
title_fullStr Bialelic pathogenic (c.830G>A (p.r277Q)) variant disrupting the GNE gene function and causes Nonaka myopathy phenotype
title_full_unstemmed Bialelic pathogenic (c.830G>A (p.r277Q)) variant disrupting the GNE gene function and causes Nonaka myopathy phenotype
title_sort bialelic pathogenic (c.830g>a (p.r277q)) variant disrupting the gne gene function and causes nonaka myopathy phenotype
publishDate 2023
url http://jnas.nbuv.gov.ua/article/UJRN-0001434339
work_keys_str_mv AT mdogan bialelicpathogenicc830ggtapr277qvariantdisruptingthegnegenefunctionandcausesnonakamyopathyphenotype
AT eakbulut bialelicpathogenicc830ggtapr277qvariantdisruptingthegnegenefunctionandcausesnonakamyopathyphenotype
AT agezdirici bialelicpathogenicc830ggtapr277qvariantdisruptingthegnegenefunctionandcausesnonakamyopathyphenotype
AT reroz bialelicpathogenicc830ggtapr277qvariantdisruptingthegnegenefunctionandcausesnonakamyopathyphenotype
AT stbozdogan bialelicpathogenicc830ggtapr277qvariantdisruptingthegnegenefunctionandcausesnonakamyopathyphenotype
first_indexed 2025-07-22T18:12:32Z
last_indexed 2025-07-22T18:12:32Z
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