Genetic & Genomic MedicineFEBS LettersPeer-reviewed
Genomic Modifiers of Neurological Resilience in a Niemann-Pick C family
Macarena Las Heras, Benjamín Szenfeld, Valeria Olguín…·Andrés D. Klein
The paper identifies genomic modifiers of neurological resilience in Niemann-Pick C disease by analyzing exomes from a family with diverse phenotypes and validates findings in yeast models.
3 citations