Varaico: Literature-Extracted Genetic Variants

Gene:WASF1
Variant:p.I494Fs
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WASF1

NM_003931.3:p.I494Fs

Associated Papers

The recurrent WASF1 nonsense variant identified in two unaffected Chinese families with neurodevelopmental disorder: case report and review of the literatures.

Tang X et al.

Bmc Medical Genomics, 2023

Recurrent de novo pathogenic variant of WASF1 in a Japanese patient with neurodevelopmental disorder with absent language and variable seizures.

Shimojima Yamamoto K et al.

Human Genome Variation, 2021

Expansion of the Genotypic and Phenotypic Spectrum of WASF1-Related Neurodevelopmental Disorder.

Srivastava S et al.

Brain Sciences, 2021

De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures.

Ito Y et al.

American Journal of Human Genetics, 2018

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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."