Identification of pathogenic variant enriched regions across genes and gene families.
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DOI: 10.1101/gr.252601.119
Abstract: Missense variant interpretation is challenging. Essential regions for protein function are conserved among gene family members, and genetic variants within these regions are potentially more likely to confer risk to disease. Here, we generated 2,871… read more here.
Keywords: gene family; variant enriched; variant; pathogenic variant ... See more keywords