Varaico: Literature-Extracted Genetic Variants

Gene:COL6A2
Variant:p.P893fs
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COL6A2

NM_001849.4:p.P893fs

Associated Papers

Causative variant profile of collagen VI-related dystrophy in Japan.

Inoue M et al.

Orphanet Journal of Rare Diseases, 2021

Rapidly progressive scoliosis and respiratory deterioration in Ullrich congenital muscular dystrophy.

Yonekawa T et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2013

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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."