Investigating the sources of variable impact of pathogenic variants in monogenic metabolic conditions

Abstract Over three percent of people carry a dominant pathogenic variant, yet only a fraction of carriers develop disease. Disease phenotypes from carriers of variants in the same gene range from mild to severe. Here, we investigate underlying mechanisms for this heterogeneity: variable variant eff...

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Hlavní autoři:	Angela Wei, Richard Border, Boyang Fu, Sinéad Cullina, Nadav Brandes, Seon-Kyeong Jang, Sriram Sankararaman, Eimear E. Kenny, Miriam S. Udler, Vasilis Ntranos, Noah Zaitlen, Valerie A. Arboleda
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Nature Portfolio 2025-06-01
Edice:	Nature Communications
On-line přístup:	https://doi.org/10.1038/s41467-025-60339-7
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