Varaico: Literature-Extracted Genetic Variants

Gene:COL6A3
Variant:p.V462M
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COL6A3

NM_057166.5:p.V462M

Associated Papers

DEVOLUTION-A method for phylogenetic reconstruction of aneuploid cancers based on multiregional genotyping data.

Andersson N et al.

Communications Biology, 2021

34545199 (PubMed )
Supplement: 42003_2021_2637_MOESM4_ESM.zip › Supplementary_data_6_TRACERx-MAGOS.xlsx › EM_Dev_all

A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Zheng J et al.

Molecular Genetics & Genomic Medicine, 2019

31165590 (PubMed )
Supplement: MGG3-7-e00748-s004.xlsx › Variants_information

Whole-exome Sequencing Helps the Diagnosis and Treatment in Children with Neurodevelopmental Delay Accompanied Unexplained Dyspnea.

Tong W et al.

Scientific Reports, 2018

29581464 (PubMed )
Supplement: 41598_2018_23503_MOESM1_ESM.xls › P22

[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."