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Article

Comprehensive targeted next-generation sequencing in patients with slow-flow vascular malformations.

Journal of human genetics - 1 Dec 2022

Nozawa Akifumi, Fujino Akihiro, Yuzuriha Shunsuke, Suenobu Souichi, Kato Aiko, Shimizu Fumiaki, Aramaki-Hattori Noriko, Kuniyeda Kanako, Sakaguchi Kazuya, Ohnishi Hidenori, Aoki Yoko, Ozeki Michio

Abstract excerpt

Recent studies have shown that the PI3K signaling pathway plays an important role in the pathogenesis of slow-flow vascular malformations (SFVMs). Analysis of genetic mutations has advanced our understanding of the mechanisms involved in SFVM pathogenesis and may identify new therapeutic targets. We screened for somatic variants in a cohort of patients with SFVMs using targeted next-generation sequencing....

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Identifiers

PMID: 36171295
DOI: 10.1038/s10038-022-01081-6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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