Systematic Cell-Based Phenotyping of Missense Alleles.
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DOI: 10.1007/978-1-4939-6960-9_17
Abstract: Sequencing of the protein-coding genome, the exome, has proven powerful to unravel links between genetic variation and disease for both Mendelian and complex conditions. Importantly, however, the increasing number of sequenced human exomes and mapping… read more here.
Keywords: missense alleles; rare low; cell based; missense ... See more keywords