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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...
Autores principales: | , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group UK
2021
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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 |