Bialelic pathogenic (c.830G>A (p.r277Q)) variant disrupting the GNE gene function and causes Nonaka myopathy phenotype
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| Date: | 2023 |
|---|---|
| Main Authors: | M. Dogan, E. Akbulut, A. Gezdirici, R. Eroz, S. T. Bozdoğan |
| Format: | Article |
| Language: | English |
| Published: |
2023
|
| Series: | Cytology and genetics |
| Online Access: | http://jnas.nbuv.gov.ua/article/UJRN-0001434339 |
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| Journal Title: | Library portal of National Academy of Sciences of Ukraine | LibNAS |
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