Varaico: Literature-Extracted Genetic Variants

Gene:COL6A3
Variant:p.R2422*
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COL6A3

NM_004369.4:p.R2422*

Associated Papers

Phenotype-genotype spectrum of a cohort of congenital muscular dystrophies: a single-centre experience from India.

Chawla T et al.

Neurogenetics, 2024

Clinical and genotypic analysis in determining dystonia non-motor phenotypic heterogeneity: a UK Biobank study.

Wadon ME et al.

Journal of Neurology, 2022

35925398 (PubMed )
Supplement: 415_2022_11307_MOESM4_ESM.xlsx › Sheet1

Pneumothoraces in collagen VI-related dystrophy: a case series and recommendations for management.

Fraser KL et al.

Erj Open Research, 2017

Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.

Punetha J et al.

Journal of Neuromuscular Diseases, 2016

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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."