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Rare disease variant curation from literature: assessing gaps with creatine transport deficiency in focus
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 research...
| Autores principales: | , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10433598/ https://www.ncbi.nlm.nih.gov/pubmed/37587458 http://dx.doi.org/10.1186/s12864-023-09561-5 |