Varaico: Literature-Extracted Genetic Variants

Gene:WDR81
Variant:p.Q28Q
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WDR81

NM_001163809.2:p.Q28Q

Associated Papers

Fetal brain arrest broadens the spectrum of WDR81-related developmental brain malformations.

Abdel-Hamid MS et al.

Neurogenetics, 2021

An extremely severe phenotype attributed to WDR81 nonsense mutations.

Cappuccio G et al.

Annals of Neurology, 2017

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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."