Varaico: Literature-Extracted Genetic Variants

Gene:TELO2
Variant:p.Q172*
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TELO2

NM_016111.4:p.Q172*

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

TELO2-related syndrome (You-Hoover-Fong syndrome): Description of 14 new affected individuals and review of the literature.

Albokhari D et al.

American Journal of Medical Genetics. Part A, 2023

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

Cataract in You-Hoover-Fong syndrome: TELO2 deficiency.

Del-Prado-Sánchez C et al.

Ophthalmic Genetics, 2020

A Syndromic Intellectual Disability Disorder Caused by Variants in TELO2, a Gene Encoding a Component of the TTT Complex.

You J et al.

American Journal of Human Genetics, 2016

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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."