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Worldwide carrier frequency and genetic prevalence of autosomal recessive inherited retinal diseases
One of the major questions in human genetics is what percentage of individuals in the general population carry a disease-causing mutation. Based on publicly available information on genotypes from six main world populations, we created a database including data on 276,921 sequence variants, present...
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| Pubblicato in: | Proc Natl Acad Sci U S A |
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| Autori principali: | , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
National Academy of Sciences
2020
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7007541/ https://ncbi.nlm.nih.gov/pubmed/31964843 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1913179117 |
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