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Deducing the pathogenic contribution of recessive ABCA4 alleles in an outbred population
Accurate prediction of the pathogenic effects of specific genotypes is important for the design and execution of clinical trials as well as for meaningful counseling of individual patients. However, for many autosomal recessive diseases, it can be difficult to deduce the relative pathogenic contribu...
Autores principales: | , , , , , , , |
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Formato: | Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2010
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2935854/ https://www.ncbi.nlm.nih.gov/pubmed/20647261 http://dx.doi.org/10.1093/hmg/ddq284 |