Varaico: Literature-Extracted Genetic Variants

Gene:WDR45B
Variant:p.G143Splc
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WDR45B

NM_019613.4:p.G143Splc

Associated Papers

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

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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."