A Revisited Diagnosis of Collagen VI Related Muscular Dystrophy in a Patient with a Novel COL6A2 Variant and 21q22.3 Deletion.
Sign Up to like & getrecommendations! Published in 2020 at "Neuropediatrics"
DOI: 10.1055/s-0040-1714125
Abstract: The genetic etiology of collagen VI related muscular dystrophies is heterogenous. Genomic deletions in one allele involving COL6A2 or both COL6A1 and COL6A2 unmasking a pathogenic variant in the second nondeleted allele have been described… read more here.
Keywords: collagen related; etiology; related muscular; col6a2 ... See more keywords
The pro-invasive factor COL6A2 serves as a novel prognostic marker of glioma
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Oncology"
DOI: 10.3389/fonc.2022.897042
Abstract: Background Glioma is an incurable malignant lesion with poor outcome characterized by easy recurrence after surgery with or without radiotherapy and chemotherapy. Studies have shown that COL6A2 is closely related to the tumorigenesis and development… read more here.
Keywords: immune genes; col6a2 expression; col6a2; glioma ... See more keywords