Varaico: Literature-Extracted Genetic Variants

Gene:VPS53
Variant:p.P231L
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VPS53

NM_001128159.3:p.P231L

Associated Papers

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

Schneeberger PE et al.

Brain : a Journal of Neurology, 2021

Novel variants underlying autosomal recessive intellectual disability in Pakistani consanguineous families.

Ilyas M et al.

Bmc Medical Genetics, 2020

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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."