Varaico: Literature-Extracted Genetic Variants

Gene:WDR62
Variant:p.Q343*
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WDR62

NM_001083961.2:p.Q343*

Associated Papers

Congenital Microcephaly: A Debate on Diagnostic Challenges and Etiological Paradigm of the Shift from Isolated/Non-Syndromic to Syndromic Microcephaly.

Asif M et al.

Cells, 2023

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

32677750 (PubMed )
Supplement: MGG3-8-e1408-s002.pdf

A novel non sense mutation in WDR62 causes autosomal recessive primary microcephaly: a case report.

Cherkaoui Jaouad I et al.

Bmc Medical Genetics, 2018

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