Varaico: Literature-Extracted Genetic Variants

Gene:COL6A2
Variant:p.L947_G950del0
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COL6A2

NM_001849.4:p.L947_G950del0

Associated Papers

Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period.

Sframeli M et al.

Neuromuscular Disorders : Nmd, 2017

Flow cytometry analysis: a quantitative method for collagen VI deficiency screening.

Kim J et al.

Neuromuscular Disorders : Nmd, 2012

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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."