Bialelic pathogenic (c.830G>A (p.r277Q)) variant disrupting the GNE gene function and causes Nonaka myopathy phenotype
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| Дата: | 2023 |
|---|---|
| Автори: | , , , , |
| Формат: | Стаття |
| Мова: | English |
| Опубліковано: |
2023
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| Назва видання: | Cytology and genetics |
| Онлайн доступ: | 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 |
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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 |
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| first_indexed |
2024-09-17T04:08:11Z |
| last_indexed |
2024-09-17T04:08:11Z |
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1810414794851745792 |