Varaico: Literature-Extracted Genetic Variants

Gene:WDR62
Variant:p.R1112Splc
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WDR62

NM_001083961.2:p.R1112Splc

Associated Papers

Neurological outcome in WDR62 primary microcephaly.

Ruaud L et al.

Developmental Medicine and Child Neurology, 2022

Further Delineation of Phenotype and Genotype of Primary Microcephaly Syndrome with Cortical Malformations Associated with Mutations in the WDR62 Gene.

Slezak R et al.

Genes, 2021

33921653 (PubMed )
Supplement: genes-12-00594-s001.zip › genes-1145756-supplementary.pdf

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

Novel compound heterozygous mutations in WDR62 gene leading to developmental delay and Primary Microcephaly in Saudi Family.

Naseer MI et al.

Pakistan Journal of Medical Sciences, 2019

A novel mutation of WDR62 gene associated with severe phenotype including infantile spasm, microcephaly, and intellectual disability.

Nardello R et al.

Brain & Development, 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."