Varaico: Literature-Extracted Genetic Variants

Gene:WDR62
Variant:p.R1136*
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WDR62

NM_001083961.2:p.R1136*

Associated Papers

Serum Proteomics Reveals Diagnostic Biomarkers and Molecular Pathways in Cerebral Palsy.

Xu Y et al.

Nature Communications, 2025

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

Identification of candidate gene FAM183A and novel pathogenic variants in known genes: High genetic heterogeneity for autosomal recessive intellectual disability.

McSherry M et al.

Plos One, 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."