NF1
NM_001042492.3:p.E547_A548Splc
Cotto KC et al.
Nature Communications, 2023
Kang E et al.
Orphanet Journal of Rare Diseases, 2022
Li M et al.
Oncotarget, 2017
Laycock-van Spyk S et al.
Human Genomics, 2011
Wiest V et al.
Human Mutation, 2003