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Carrier detection probabilities for autosomal recessive variants in unrelated and consanguineous couples — an evaluation of the 86 genes of the ACMG ‘Tier 3’ panel
Carrier screening for autosomal recessive variants has become a cornerstone of community and public health genetics. While the first carrier screening programs were confined to conditions with relatively high prevalence, and hence well-known carrier frequency, the number of candidate genes has incre...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Springer Berlin Heidelberg
2022
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9314508/ https://www.ncbi.nlm.nih.gov/pubmed/35661981 http://dx.doi.org/10.1007/s12687-022-00593-0 |