6 Matching Annotations
  1. Mar 2026
    1. Comprehensive molecular and clinicopathological analysis of vascular malformations: A study of 319 cases

      [Paper-level Aggregated] PMCID: PMC6594036

      Evidence Type(s): Functional

      Summary: Mutation: Arg918Cys | Summary: The mutation Arg918Cys is likely to alter molecular or biochemical function.

      Evidence Type: Functional Mutation: Tyr897Cys | Summary: The mutation Tyr897Cys is likely to alter molecular or biochemical function.

      Gene→Variant (gene-first): KRAS(3845):Arg918Cys TEK(7010):Tyr897Cys

      Genes: KRAS(3845) TEK(7010)

      Variants: Arg918Cys Tyr897Cys

    2. Comprehensive molecular and clinicopathological analysis of vascular malformations: A study of 319 cases

      [Paper-level Aggregated] PMCID: PMC6594036

      Evidence Type(s): Oncogenic

      Summary: Mutation: 2690A > G | Summary: The mutation 2690A > G in the TEK gene is associated with tumor development or progression.

      Evidence Type: Oncogenic Mutation: c.2752A > G | Summary: The mutation c.2752A > G in the TEK gene is associated with tumor development or progression.

      Gene→Variant (gene-first): TEK(7010):2690A > G TEK(7010):c.2752A > G

      Genes: TEK(7010)

      Variants: 2690A > G c.2752A > G

    3. 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): Oncogenic, Functional

      Summary: Evidence Type: Oncogenic | Mutation: 2690A > G | Summary: The mutation 2690A > G in the TEK gene is associated with tumor development or progression. Evidence Type: Oncogenic | Mutation: c.2752A > G | Summary: The mutation c.2752A > G in the TEK gene is associated with tumor development or progression. Evidence Type: Functional | Mutation: Arg918Cys | Summary: The mutation Arg918Cys is likely to alter molecular or biochemical function. Evidence Type: Functional | Mutation: Tyr897Cys | Summary: The mutation Tyr897Cys is likely to alter molecular or biochemical function.

      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

  2. Feb 2026
    1. 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

    2. 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