Base by Base
474: Two collagen genes, two different risks
19:39
Tzoumkas K et al., The American Journal of Human Genetics - COL4A3 and COL4A4 are paralogous genes that build the same collagen IV network in the kidney filter, and variant guidelines have generally treated them as interchangeable. This episode follows a population-scale study in the UK Biobank, replicated in All of Us, showing that truncating and NC1 domain missense variants carry much stronger…