Associated Papers
Novel Findings in Pediatric and Adolescent Patients With Cancer and a Germline SMARCA4 Variant.
van Engelen N et al.
Pediatric Blood & Cancer, 2025
40580017 (PubMed )
Supplement: supplement_1.docx
RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation.
Revencu N et al.
Human Mutation, 2013
Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations.
Revencu N et al.
Human Mutation, 2008
Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11-17 distinct from the GAP related domain.
Mattocks C et al.
Journal of Medical Genetics, 2004
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