Varaico: Literature-Extracted Genetic Variants

Gene:COL6A3
Variant:p.A1638T
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COL6A3

NM_004369.4:p.A1638T

Associated Papers

Whole exome sequencing of 80 cases of sporadic mitral valve prolapse reveals novel disease-associated genes and variants in a Southern Chinese population.

Wang Q et al.

Genes & Genomics, 2025

Whole-exome sequencing in a cohort of Chinese patients with isolated cervical dystonia.

Wu R et al.

Heliyon, 2024

Comprehensive evaluation of AlphaMissense predictions by evidence quantification for variants of uncertain significance.

Kurtovic-Kozaric A et al.

Frontiers in Genetics, 2024

39720176 (PubMed )
Supplement: Table1.xlsx › Supplementary_Table_1

A novel compound heterozygous mutation of COL6A3 in Chinese patients with isolated cervical dystonia.

Wu R et al.

Frontiers in Neurology, 2023

Genetic analysis of dystonia-related genes in Parkinson's disease.

Wang Y et al.

Frontiers in Aging Neuroscience, 2023

Study of the collagen type VI alpha 3 (COL6A3) gene in Parkinson's disease.

Jin CY et al.

Bmc Neurology, 2021

Phenotype-Driven Virtual Panel Is an Effective Method to Analyze WES Data of Neurological Disease.

Wang X et al.

Frontiers in Pharmacology, 2018

[Correlation of the autophagosome gene ATG16L1 polymorphism and inflammatory bowel disease].

Zhi J et al.

Nan Fang Yi Ke Da Xue Xue Bao = Journal of Southern Medical University, 2008

[Relationship of collagen type I alpha 1 and alpha 2 gene polymorphisms with bone mineral density].

Li DF et al.

Nan Fang Yi Ke Da Xue Xue Bao = Journal of Southern Medical University, 2006

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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."