Varaico: Literature-Extracted Genetic Variants

Gene:WDR62
Variant:p.H533R
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WDR62

NM_001083961.2:p.H533R

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

Novel phenotype and genotype spectrum of WDR62 in two patients with associated primary autosomal recessive microcephaly.

Aryan H et al.

Irish Journal of Medical Science, 2022

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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."