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UnknownThe importance of verifying the novelty of a finding and the value of combining results.
Not available
S-EPMC9186143 | biostudies-literature
UnknownTranscriptome Analysis of Ullrich Congenital Muscular Dystrophy Fibroblasts Reveals a Disease Extracellular Matrix Signature and Key Molecular Regulators.
Not available
S-EPMC4686057 | biostudies-literature
UnknownRecurrent rhabdomyolysis and exercise intolerance: A new phenotype of late-onset thymidine kinase 2 deficiency.
Not available
S-EPMC7797901 | biostudies-literature
UnknownProteomic and functional characterisation of extracellular vesicles from collagen VI deficient human fibroblasts reveals a role in cell motility.
Not available
S-EPMC10480450 | biostudies-literature
UnknownCharacterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>T.
Not available
S-EPMC12404708 | biostudies-literature
UnknownCRISPR/Cas9-Mediated Allele-Specific Disruption of a Dominant COL6A1 Pathogenic Variant Improves Collagen VI Network in Patient Fibroblasts.
Not available
S-EPMC9025481 | biostudies-literature
UnknownAssociation between coenzyme Q10 and glucose transporter (GLUT1) deficiency.
Not available
S-EPMC4228097 | biostudies-literature
UnknownThe 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.
Not available
S-EPMC10996746 | biostudies-literature
UnknownConsiderations in the Preclinical Assessment of the Safety of Antisense Oligonucleotides.
Not available
S-EPMC9940817 | biostudies-literature
ProteomicsProteomic analysis of Collagen-VI-deficient fibroblasts
Proteomic analysis of Collagen VI-deficient fibroblasts at the level of secretome and extracellular vesicles
ORGANISM(S): Homo sapiens (Human) 
2023-10-24 | PXD018765 | Pride
Proteomics Fibroblasts 
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