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...

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Detalles Bibliográficos
Autores principales: Lyons, Erica L., Watson, Daniel, Alodadi, Mohammad S., Haugabook, Sharie J., Tawa, Gregory J., Hannah-Shmouni, Fady, Porter, Forbes D., Collins, Jack R., Ottinger, Elizabeth A., Mudunuri, Uma S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
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

Internet

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

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