Associated Papers
Comprehensive evaluation of AlphaMissense predictions by evidence quantification for variants of uncertain significance.
Kurtovic-Kozaric A et al.
Frontiers in Genetics, 2024
39720176 (PubMed )
Supplement: Table1.xlsx › Supplementary_Table_1
Collagen VI deficiency causes behavioral abnormalities and cortical dopaminergic dysfunction.
Gregorio I et al.
Disease Models & Mechanisms, 2022
Ablation of collagen VI leads to the release of platelets with altered function.
Abbonante V et al.
Blood Advances, 2021
An Integrated Clinical-Biological Approach to Identify Interindividual Variability and Atypical Phenotype-Genotype Correlations in Myopathies: Experience on A Cohort of 156 Families.
Juntas Morales R et al.
Genes, 2021
34440373 (PubMed )
Supplement: genes-12-01199-s001.zip › MORALES_et_al.__Supplemental_table_2.pdf
Collagen VI is required for the structural and functional integrity of the neuromuscular junction.
Cescon M et al.
Acta Neuropathologica, 2018
A Reliable Targeted Next-Generation Sequencing Strategy for Diagnosis of Myopathies and Muscular Dystrophies, Especially for the Giant Titin and Nebulin Genes.
Zenagui R et al.
The Journal of Molecular Diagnostics : Jmd, 2018
Bethlem myopathy: long-term follow-up identifies COL6 mutations predicting severe clinical evolution.
Deconinck N et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2015
Differentiating Emery-Dreifuss muscular dystrophy and collagen VI-related myopathies using a specific CT scanner pattern.
Deconinck N et al.
Neuromuscular Disorders : Nmd, 2010
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