Genetic & Genomic MedicinemedRxivPreprint
The pathogenic p.(R391G) ABCC6 displays incomplete penetrance implying the necessity of an interacting partner for the development of pseudoxanthoma elasticum
Flóra Szeri, Ágnes Mikó, Nastassia M. Navasiolava…·Tamás Arányi
The paper investigates incomplete penetrance of the p.R391G ABCC6 variant in pseudoxanthoma elasticum, suggesting the need for an interacting partner for disease development.
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