Molecular BiologyThe American Journal of Human GeneticsPeer-reviewed
Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation
Warren van Loggerenberg, Shahin Sowlati‐Hashjin, Jochen Weile…·Frederick P. Roth
This study systematically tests HMBS missense variants to determine their functional impact and distinguish pathogenic from benign variants.
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