Varaico: Literature-Extracted Genetic Variants

Gene:WDR62
Variant:p.V1402_P1403delFs
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WDR62

NM_001083961.2:p.V1402_P1403delFs

Associated Papers

Neurological outcome in WDR62 primary microcephaly.

Ruaud L et al.

Developmental Medicine and Child Neurology, 2022

An update of pathogenic variants in ASPM, WDR62, CDK5RAP2, STIL, CENPJ, and CEP135 underlying autosomal recessive primary microcephaly in 32 consanguineous families from Pakistan.

Rasool S et al.

Molecular Genetics & Genomic Medicine, 2020

A novel WDR62 missense mutation in microcephaly with abnormal cortical architecture and review of the literature.

Zombor M et al.

Journal of Applied Genetics, 2019

The Role of WD40-Repeat Protein 62 (MCPH2) in Brain Growth: Diverse Molecular and Cellular Mechanisms Required for Cortical Development.

Shohayeb B et al.

Molecular Neurobiology, 2018

Abnormal centrosome and spindle morphology in a patient with autosomal recessive primary microcephaly type 2 due to compound heterozygous WDR62 gene mutation.

Farag HG et al.

Orphanet Journal of Rare Diseases, 2013

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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."