Varaico: Literature-Extracted Genetic Variants

Gene:WDR81
Variant:p.Q628*
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WDR81

NM_001163809.2:p.Q628*

Associated Papers

Endosomal trafficking defects alter neural progenitor proliferation and cause microcephaly.

Carpentieri JA et al.

Nature Communications, 2022

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

Abdel-Hamid MS et al.

Neurogenetics, 2021

Novel compound heterozygous frameshift variants in WDR81 associated with congenital hydrocephalus 3 with brain anomalies: First Chinese prenatal case confirms WDR81 involvement.

Su J et al.

Molecular Genetics & Genomic Medicine, 2021

Reduction of WDR81 impairs autophagic clearance of aggregated proteins and cell viability in neurodegenerative phenotypes.

Liu X et al.

Plos Genetics, 2021

WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells.

Cavallin M et al.

Brain : a Journal 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."