Varaico: Literature-Extracted Genetic Variants

Gene:COL6A3
Variant:p.G2053C
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COL6A3

NM_004369.4:p.G2053C

Associated Papers

Benchmarking RNA-seq Tools for Real-World Diagnostic Applications.

Silverstein S et al.

Medrxiv : the Preprint Server for Health Sciences, 2026

41646813 (PubMed )
Supplement: media-3.xlsx › Table_S5

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

Comprehensive target capture/next-generation sequencing as a second-tier diagnostic approach for congenital muscular dystrophy in Taiwan.

Liang WC et al.

Plos One, 2017

Correction: Comprehensive target capture/next-generation sequencing as a second-tier diagnostic approach for congenital muscular dystrophy in Taiwan.

Liang WC et al.

Plos One, 0

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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."