Bialelic pathogenic (c.830G>A (p.r277Q)) variant disrupting the GNE gene function and causes Nonaka myopathy phenotype
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| Datum: | 2023 |
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| Hauptverfasser: | , , , , |
| Format: | Artikel |
| Sprache: | Englisch |
| Veröffentlicht: |
2023
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| 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| _version_ | 1859608044137086976 |
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| 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 |
| collection | Open-Science |
| first_indexed | 2025-07-22T18:12:32Z |
| format | Article |
| id | open-sciencenbuvgovua-110096 |
| institution | Library portal of National Academy of Sciences of Ukraine | LibNAS |
| language | English |
| last_indexed | 2025-07-22T18:12:32Z |
| publishDate | 2023 |
| record_format | dspace |
| series | Cytology and genetics |
| 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 |
| 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 |
| title | 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_short | 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 |
| url | http://jnas.nbuv.gov.ua/article/UJRN-0001434339 |
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