Associated Papers
Benchmarking RNA-seq Tools for Real-World Diagnostic Applications.
Silverstein S et al.
Medrxiv : the Preprint Server for Health Sciences, 2026
41646813 (PubMed )
Supplement: media-3.xlsx › Table_S5
Inter- and intra-familial phenotypic variability of autosomal dominant collagen VI related disorder.
Hu C et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025
EZH2 loss promotes gastric squamous cell carcinoma.
Zhang M et al.
Nature Communications, 2025
40595652 (PubMed )
Supplement: 41467_2025_61024_MOESM3_ESM.xlsx › mutation_gene_list
The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy.
Foley AR et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
38585825 (PubMed )
Supplement: media-1.docx
Clinical, Pathologic, and Genetic Spectrum of Collagen VI-Related Disorder in China-A Retrospective Observational Multicenter Study.
Hu C et al.
Human Mutation, 2024
A novel variant in the COL6A1 gene causing Ullrich congenital muscular dystrophy in a consanguineous family: a case report.
Sirisena ND et al.
Bmc Neurology, 2021
Clinical, Pathologic, and Genetic Features of Collagen VI-Related Myopathy in Korea.
Lee JH et al.
Journal of Clinical Neurology (seoul, Korea), 2017
Ullrich Congenital Muscular Dystrophy Possibly Related With COL6A1 p.Gly302Arg Variant.
Park Y et al.
Annals of Rehabilitation Medicine, 2014
Precision medicine using whole genome sequencing in a cat identifies a novel COL5A1 variant for classical Ehlers-Danlos syndrome.
McElroy A et al.
Journal of Veterinary Internal Medicine, 0
37594181 (PubMed )
Supplement: JVIM-37-1716-s005.xlsx › ST2B-ClinVar_COL6A1
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