Varaico: Literature-Extracted Genetic Variants

Gene:WDR35
Variant:p.G72Splc
Back to variants list

WDR35

NM_020779.4:p.G72Splc

Associated Papers

Aberrant Splicing Caused by Compound Heterozygous Variants in WDR35 Identified in a Fetus With Cranioectodermal Dysplasia 2.

Zhou C et al.

Prenatal Diagnosis, 2025

RNA splicing analysis contributes to reclassifying variants of uncertain significance and improves the diagnosis of monogenic disorders.

He WB et al.

Journal of Medical Genetics, 2022

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."