Varaico: Literature-Extracted Genetic Variants

Gene:COL6A2
Variant:p.G935R
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COL6A2

NM_001849.4:p.G935R

Associated Papers

Genomic characteristics and immune landscape of super multiple primary lung cancer.

Yang Z et al.

Ebiomedicine, 2024

38364701 (PubMed )
Supplement: mmc2.xlsx › all_212.somatic.igv_recheck.mut

Protein domains provide a new layer of information for classifying human variations in rare diseases.

Corcuff M et al.

Frontiers in Bioinformatics, 2023

36896423 (PubMed )
Supplement: Table1.XLSX › Supplementary_Table_1

A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield.

Ankala A et al.

Annals of Neurology, 2015

Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy.

Lampe AK et al.

Journal of Medical Genetics, 2005

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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."