Comprehensive molecular and clinicopathological analysis of vascular malformations: A study of 319 cases
[Paper-level Aggregated] PMCID: PMC6594036
Evidence Type(s): nan
Justification: No positive paragraphs to aggregate.
Gene→Variant (gene-first):
Genes:
Variants:
In the retrospective cohort (n = 102), 14 samples were excluded due to insufficient coverage. Among the remaining 88 cases, 45 cases had mutations: 27 PIK3CA, 11 TEK (one with two mutations in cis, TEK: c.[2690A > G; c.2
[Paragraph-level] PMCID: PMC6594036 Section: RESULTS PassageIndex: 8
Evidence Type(s): None
Justification: Not enough information in this passage.
Gene→Variant (gene-first): 7010:2690A > G 3845:Arg918Cys 7010:Tyr897Cys 7010:c.2752A > G
Genes: 7010 3845
Variants: 2690A > G Arg918Cys Tyr897Cys c.2752A > G
In the retrospective cohort (n = 102), 14 samples were excluded due to insufficient coverage. Among the remaining 88 cases, 45 cases had mutations: 27 PIK3CA, 11 TEK (one with two mutations in cis, TEK: c.[2690A > G; c.2
[Paragraph-level] PMCID: PMC6594036 Section: RESULTS PassageIndex: 8
Evidence Type(s): None
Justification: Not enough information in this passage.
Gene→Variant (gene-first): 7010:2690A > G 3845:Arg918Cys 7010:Tyr897Cys 7010:c.2752A > G
Genes: 7010 3845
Variants: 2690A > G Arg918Cys Tyr897Cys c.2752A > G