Varaico: Literature-Extracted Genetic Variants

Gene:WDR45
Variant:p.D17A
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WDR45

NM_001029896.2:p.D17A

Associated Papers

Comprehensive analysis of autophagic functions of WIPI family proteins and their implications for the pathogenesis of β-propeller associated neurodegeneration.

Shimizu T et al.

Human Molecular Genetics, 2023

WIPI3 and WIPI4 β-propellers are scaffolds for LKB1-AMPK-TSC signalling circuits in the control of autophagy.

Bakula D et al.

Nature Communications, 2017

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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."