The implementation and utility of clinical exome sequencing in a South African infant cohort

Genetic disorders are significant contributors to infant hospitalization and mortality globally. The early diagnosis of these conditions in infants remains a considerable challenge. Clinical exome sequencing (CES) has shown to be a successful tool for the early diagnosis of genetic conditions, howev...

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Detalles Bibliográficos
Autores principales: Campbell, L., Fredericks, J., Mathivha, K., Moshesh, P., Coovadia, A., Chirwa, P., Dillon, B., Ghoor, A., Lawrence, D., Nair, L., Mabaso, N., Mokwele, D., Novellie, M., Krause, A., Carstens, N.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10665497/
https://www.ncbi.nlm.nih.gov/pubmed/38028619
http://dx.doi.org/10.3389/fgene.2023.1277948

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10665497/
https://www.ncbi.nlm.nih.gov/pubmed/38028619
http://dx.doi.org/10.3389/fgene.2023.1277948

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