Varaico: Literature-Extracted Genetic Variants

Gene:COL3A1
Variant:p.R596*
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COL3A1

NM_000090.4:p.R596*

Associated Papers

Assessment of arterial damage in vascular Ehlers-Danlos syndrome: A retrospective multicentric cohort.

Adham S et al.

Frontiers in Cardiovascular Medicine, 2022

36262204 (PubMed )
Supplement: Table_1.XLSX › Feuil1

Tumor Sequencing and Patient-Derived Xenografts in the Neoadjuvant Treatment of Breast Cancer.

Goetz MP et al.

Journal of the National Cancer Institute, 2017

28376176 (PubMed )
Supplement: djw306_Supp.zip › 16-0785R2_Goetz_Supplementary_Tables_3-6_111716.xlsx › Suppl_Table_5g

Bi-allelic variants in COL3A1 encoding the ligand to GPR56 are associated with cobblestone-like cortical malformation, white matter changes and cerebellar cysts.

Vandervore L et al.

Journal of Medical Genetics, 2017

Vascular Ehlers-Danlos Syndrome in siblings with biallelic COL3A1 sequence variants and marked clinical variability in the extended family.

Jørgensen A et al.

European Journal of Human Genetics : Ejhg, 2015

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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."