Varaico: Literature-Extracted Genetic Variants

Gene:COL5A2
Variant:p.S949C
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COL5A2

NM_000393.5:p.S949C

Associated Papers

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

Identification of Novel Clinically Relevant Variants in 70 Southern Chinese patients with Thoracic Aortic Aneurysm and Dissection by Next-generation Sequencing.

Fang M et al.

Scientific Reports, 2017

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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."