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
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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