The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders
Abstract 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 disorder...
| Main Authors: | , |
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| Format: | Article |
| Language: | English |
| Published: |
Nature Publishing Group
2021-06-01
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| Series: | npj Genomic Medicine |
| Online Access: | https://doi.org/10.1038/s41525-021-00203-x |