Varaico: Literature-Extracted Genetic Variants

Gene:YY1
Variant:p.H320Y
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YY1

NM_003403.5:p.H320Y

Associated Papers

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

Yang J et al.

Molecular Genetics & Genomic Medicine, 2024

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

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

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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."