Article

Somatic RIT1 indels identified in arteriovenous malformations hyperactivate RAS-MAPK signaling and are amenable to MEK inhibition

2023-11-13

Abstract excerpt

Arteriovenous malformations (AVM) are benign vascular anomalies prone to pain, bleeding, and progressive growth. Treatment is often difficult and relapse after therapy is common. AVM are mainly caused by somatic mosaicism with pathogenic variants of the RAS-MAPK pathway. However, a causative variant is not identified in all patients. Using ultra-deep next generation sequencing we identified novel somatic RIT1 inde...

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Literature Corpus work: 4f03f7f9-d10f-57c1-8796-59d67f5a2b0b
DOI: 10.1101/2023.11.13.23298448

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