Varaico: Literature-Extracted Genetic Variants

Gene:TELO2
Variant:p.R767C
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TELO2

NM_016111.4:p.R767C

Associated Papers

Expansion of the Phenotype of You-Hoover-Fong Syndrome and Possible Increased Risk of Cancer.

De Falco A et al.

American Journal of Medical Genetics. Part A, 2025

The first Iranian patient with You-Hoover-Fong syndrome and a review of the literature on 27 cases: expanding the genotypic and phenotypic spectrum.

Shokrollahi N et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2024

Novel compound heterozygous mutations in TELO2 in an infant with You-Hoover-Fong syndrome: A case report and literature review.

Zhao Y et al.

Open Life Sciences, 2023

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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."