Varaico: Literature-Extracted Genetic Variants

Gene:YY1
Variant:p.N369S
Back to variants list

YY1

NM_003403.5:p.N369S

Associated Papers

Clinical analysis of Gabriele-de Vries caused by YY1 mutations and literature review.

Yang J et al.

Molecular Genetics & Genomic Medicine, 2024

A de novo YY1 missense variant expanding the Gabriele-de Vries syndrome phenotype and affecting X-chromosome inactivation.

Dos Santos SR et al.

Metabolic Brain Disease, 2022

Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay.

Seo GH et al.

Molecular Medicine (cambridge, Mass.), 2022

35346031 (PubMed )
Supplement: 10020_2022_464_MOESM4_ESM.xlsx › Supplementary_Table_3
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."