Varaico: Literature-Extracted Genetic Variants

Gene:WDR45
Variant:p.V66E
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WDR45

NM_001029896.2:p.V66E

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

Quantitative retrospective natural history modeling of WDR45-related developmental and epileptic encephalopathy - a systematic cross-sectional analysis of 160 published cases.

Saffari A et al.

Autophagy, 2022

WDR45, one gene associated with multiple neurodevelopmental disorders.

Cong Y et al.

Autophagy, 2021

The WIPI Gene Family and Neurodegenerative Diseases: Insights From Yeast and Dictyostelium Models.

Vincent O et al.

Frontiers in Cell and Developmental Biology, 2021

Epileptic encephalopathy and brain iron accumulation due to WDR45 mutation.

Khoury J et al.

Seizure, 2019

Characteristic Neuroimaging Findings in β-propeller Protein-associated Neurodegeneration.

Larsh T

Journal of Pediatric Neurosciences, 0

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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."