Varaico: Literature-Extracted Genetic Variants

Gene:YY1
Variant:p.C303R
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YY1

NM_003403.5:p.C303R

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

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

Clinical features of patients with Yin Yang 1 deficiency causing Gabriele-de Vries syndrome: A new case and review of the literature.

Khamirani HJ et al.

Annals of Human Genetics, 2022

Complex movement disorder in a patient with heterozygous YY1 mutation (Gabriele-de Vries syndrome).

Carminho-Rodrigues MT et al.

American Journal of Medical Genetics. Part A, 2020

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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."