Varaico: Literature-Extracted Genetic Variants

Gene:COL6A3
Variant:p.R689C
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COL6A3

NM_057164.5:p.R689C

Associated Papers

The molecular genetics of anterior segment dysgenesis.

Kuang L et al.

Experimental Eye Research, 2023

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

Wang Y et al.

Frontiers in Aging Neuroscience, 2023

Pan-cancer assessment of mutational landscape in intrinsically disordered hotspots reveals potential driver genes.

Zou H et al.

Nucleic Acids Research, 2022

35061901 (PubMed )
Supplement: gkac028_supplemental_files.zip › Table_S3_new.xlsx › Sheet1

Clinical and Genetic Analysis of CHD7 Expands the Genotype and Phenotype of CHARGE Syndrome.

Qin Z et al.

Frontiers in Genetics, 2020

32625235 (PubMed )
Supplement: Data_Sheet_1.zip › Supplementary_Table_2.XLSX › patient_1

Novel Mutations in COL6A3 That Associated With Peters' Anomaly Caused Abnormal Intracellular Protein Retention and Decreased Cellular Resistance to Oxidative Stress.

Li Y et al.

Frontiers in Cell and Developmental Biology, 2020

[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."