Varaico: Literature-Extracted Genetic Variants

Gene:WDR81
Variant:p.S1556_G1557delFs
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WDR81

NM_001163809.2:p.S1556_G1557delFs

Associated Papers

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

Abdel-Hamid MS et al.

Neurogenetics, 2021

A Novel Homozygous Frameshift WDR81 Mutation associated with Microlissencephaly, Corpus Callosum Agenesis, and Pontocerebellar Hypoplasia.

Kalmár T et al.

Journal of Pediatric Genetics, 2021

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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."