Associated Papers
Biallelic variants in VPS50 cause a neurodevelopmental disorder with neonatal cholestasis.
Schneeberger PE et al.
Brain : a Journal of Neurology, 2021
The rare mutation in the endosome-associated recycling protein gene VPS50 is associated with human neural tube defects.
Shi Z et al.
Molecular Cytogenetics, 2019
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