Succinic semialdehyde dehydrogenase deficiency: a metabolic and genomic approach to diagnosis
Genomic sequencing offers an untargeted, data-driven approach to genetic diagnosis; however, variants of uncertain significance often hinder the diagnostic process. The discovery of rare genomic variants without previously known functional evidence of pathogenicity often results in variants being ov...
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| Главные авторы: | , , , , , , , , , |
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| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
Frontiers Media S.A.
2024-06-01
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| Серии: | Frontiers in Genetics |
| Предметы: | |
| Online-ссылка: | https://www.frontiersin.org/articles/10.3389/fgene.2024.1405468/full |
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