Varaico: Literature-Extracted Genetic Variants

Gene:YY1
Variant:p.I287fs
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YY1

NM_003403.5:p.I287fs

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

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

A case of YY1-associated syndromic learning disability or Gabriele-de Vries syndrome with myasthenia gravis.

Morales-Rosado JA et al.

American Journal of Medical Genetics. Part A, 2018

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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."