Associated Papers
Landscape Analysis of COL6A1, COL6A2, and COL6A3 Pathogenic Variants in a Large Italian Cohort Presenting with Collagen VI-Related Myopathies: A Nationwide Report.
Fortunato F et al.
Biomolecules, 2025
Genetic Profile of Patients with Limb-Girdle Muscle Weakness in the Chilean Population.
Cerino M et al.
Genes, 2022
35741838 (PubMed )
Supplement: genes-13-01076-s001.zip › genes-1739915-supplementary › Supplementary_Material › Supplementary_Table_S1.pdf
Genetic and clinical findings in a Chinese cohort of patients with collagen VI-related myopathies.
Fan Y et al.
Clinical Genetics, 2018
Recurrent mutation of IGF signalling genes and distinct patterns of genomic rearrangement in osteosarcoma.
Behjati S et al.
Nature Communications, 2017
28643781 (PubMed )
Supplement: ncomms15936-s3.xlsx › Table_S2
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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