Varaico: Literature-Extracted Genetic Variants

Gene:COL6A2
Variant:p.V728V
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COL6A2

NM_001849.4:p.V728V

Associated Papers

Investigating the Genetic Etiology of Pediatric Patients with Peripheral Hypotonia Using the Next-Generation Sequencing Method.

Eker D et al.

Global Medical Genetics, 2022

[Clinical features and FKRP mutations of congenital muscular dystrophy 1C].

Hong XW et al.

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2018

Novel collagen VI mutations identified in Chinese patients with Ullrich congenital muscular dystrophy.

Zhang YZ et al.

World Journal of Pediatrics : Wjp, 2014

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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."