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The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders

Autosomal recessive (AR) disorders pose a significant burden for public health. However, despite their clinical importance, epidemiology and molecular genetics of many AR diseases remain poorly characterized. Here, we analyzed the genetic variability of 508 genes associated with AR disorders based o...

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Detalles Bibliográficos
Autores principales: Xiao, Qingyang, Lauschke, Volker M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8172936/
https://www.ncbi.nlm.nih.gov/pubmed/34078906
http://dx.doi.org/10.1038/s41525-021-00203-x