Varaico: Literature-Extracted Genetic Variants

Gene:WDR45B
Variant:p.R226T
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WDR45B

NM_019613.4:p.R226T

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

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

Zhang J et al.

Molecular Genetics & Genomic Medicine, 2022

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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."