Varaico: Literature-Extracted Genetic Variants

Gene:VPS50
Variant:p.T608del1
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VPS50

NM_017667.4:p.T608del1

Associated Papers

Complex structural variation and nonsense variant in trans cause VPS50-related disorder.

Hecher L et al.

Journal of Medical Genetics, 2024

Biallelic variants in VPS50 cause a neurodevelopmental disorder with neonatal cholestasis.

Schneeberger PE et al.

Brain : a Journal of Neurology, 2021

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."