Varaico: Literature-Extracted Genetic Variants

Gene:YY1
Variant:p.D129fs
Back to variants list

YY1

NM_003403.5:p.D129fs

Associated Papers

YY1 mutations disrupt corticogenesis through a cell type specific rewiring of cell-autonomous and non-cell-autonomous transcriptional programs.

Pereira MF et al.

Molecular Psychiatry, 2025

Hashimoto's thyroiditis and nanophthalmos in Gabriele-de Vries syndrome: a case report.

Huang H et al.

Frontiers in Endocrinology, 2025

YY1 mutations disrupt corticogenesis through a cell-type specific rewiring of cell-autonomous and non-cell-autonomous transcriptional programs.

Pereira MF et al.

Biorxiv : the Preprint Server for Biology, 2024

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

A 9-month-old Chinese patient with Gabriele-de Vries syndrome due to novel germline mutation in the YY1 gene.

Tan L et al.

Molecular Genetics & Genomic Medicine, 2021

YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction.

Gabriele M et al.

American Journal of Human Genetics, 2017

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."