Varaico: Literature-Extracted Genetic Variants

Gene:WDR45B
Variant:p.R109Q
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WDR45B

NM_019613.4:p.R109Q

Associated Papers

Structure of the WIPI3/ATG16L1 Complex Reveals the Molecular Basis for the Recruitment of the ATG12~ATG5-ATG16L1 Complex by WIPI3.

Gong X et al.

Cells, 2024

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

A homozygous variant of WDR45B results in global developmental delay: Additional case and literature review.

Zhang J et al.

Molecular Genetics & Genomic Medicine, 2022

El-Hattab-Alkuraya syndrome caused by biallelic WDR45B pathogenic variants: Further delineation of the phenotype and genotype.

Almannai M et al.

Clinical Genetics, 2022

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

Vincent O et al.

Frontiers in Cell and Developmental Biology, 2021

WDR45B-related intellectual disability, spastic quadriplegia, epilepsy, and cerebral hypoplasia: A consistent neurodevelopmental syndrome.

Suleiman J et al.

Clinical Genetics, 2018

Deep sequencing reveals 50 novel genes for recessive cognitive disorders.

Najmabadi H et al.

Nature, 2011

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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."