Varaico: Literature-Extracted Genetic Variants

Gene:COL5A2
Variant:p.P833_G834Splc
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COL5A2

NM_000393.5:p.P833_G834Splc

Associated Papers

Multisystemic manifestations in a cohort of 75 classical Ehlers-Danlos syndrome patients: natural history and nosological perspectives.

Ritelli M et al.

Orphanet Journal of Rare Diseases, 2020

32736638 (PubMed )
Supplement: 13023_2020_1470_MOESM1_ESM.xls › 2017_Criteria

A case of Ehlers-Danlos syndrome presenting with widened atrophic scars of forehead, elbow, knee, and pretibial area: A case report.

Xu X et al.

Medicine, 2019

Molecular insights in the pathogenesis of classical Ehlers-Danlos syndrome from transcriptome-wide expression profiling of patients' skin fibroblasts.

Chiarelli N et al.

Plos One, 2019

Dermal fibroblast-to-myofibroblast transition sustained by αvß3 integrin-ILK-Snail1/Slug signaling is a common feature for hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders.

Zoppi N et al.

Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2018

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."