Varaico: Literature-Extracted Genetic Variants

Gene:COL6A3
Variant:p.L1723_L1726del0
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COL6A3

NM_004369.4:p.L1723_L1726del0

Associated Papers

Segregation of the COL6A2 Variant (c.1817-3C>G) in a Consanguineous Saudi Family with Bethlem Myopathy.

Aldharee H et al.

Genes, 2024

[Clinical manifestations and genetics analysis of collagen type Ⅵ-related myopathy caused by variants in COL6A3 gene].

Peng XY et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2019

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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."