Rare disease variant curation from literature: assessing gaps with creatine transport deficiency in focus
Abstract Background Approximately 4–8% of the world suffers from a rare disease. Rare diseases are often difficult to diagnose, and many do not have approved therapies. Genetic sequencing has the potential to shorten the current diagnostic process, increase mechanistic understanding, and facilitate...
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| Autors principals: | , , , , , , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
BMC
2023-08-01
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| Col·lecció: | BMC Genomics |
| Matèries: | |
| Accés en línia: | https://doi.org/10.1186/s12864-023-09561-5 |
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