Varaico: Literature-Extracted Genetic Variants

Gene:SUZ12
Variant:p.Q599H
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SUZ12

NM_015355.4:p.Q599H

Associated Papers

Exome sequencing of patients with syndromic tall stature reveals four novel candidate genes.

Kim GJ et al.

Endocrine Connections, 2025

Imagawa-Matsumoto syndrome: SUZ12-related overgrowth disorder.

Imagawa E et al.

Clinical Genetics, 2023

Genetic investigation of patients with tall stature.

Vasco de Albuquerque Albuquerque E et al.

European Journal of Endocrinology, 2020

Rare SUZ12 variants commonly cause an overgrowth phenotype.

Cyrus SS et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2019

Novel SUZ12 mutations in Weaver-like syndrome.

Imagawa E et al.

Clinical Genetics, 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."