Varaico: Literature-Extracted Genetic Variants

Gene:COQ6
Variant:p.D208H
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COQ6

NM_182476.3:p.D208H

Associated Papers

Novel susceptibility genes for non-NF2-/LZTR1-/SMARCB1-related hereditary schwannomatosis.

Nogué C et al.

Familial Cancer, 2025

Predicting and Understanding the Pathology of Single Nucleotide Variants in Human COQ Genes.

Wang S et al.

Antioxidants (basel, Switzerland), 2022

Screening of potential novel candidate genes in schwannomatosis patients.

Perez-Becerril C et al.

Human Mutation, 2022

The molecular pathogenesis of schwannomatosis, a paradigm for the co-involvement of multiple tumour suppressor genes in tumorigenesis.

Kehrer-Sawatzki H et al.

Human Genetics, 2017

Coenzyme Q Biosynthesis: Evidence for a Substrate Access Channel in the FAD-Dependent Monooxygenase Coq6.

Ismail A et al.

Plos Computational Biology, 2016

Identification of novel hereditary cancer genes by whole exome sequencing.

Sokolenko AP et al.

Cancer Letters, 2015

A germline missense mutation in COQ6 is associated with susceptibility to familial schwannomatosis.

Zhang K et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2014

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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."