NF1
NM_001042492.3:p.I2264insFs
Fahsold R et al.
American Journal of Human Genetics, 2000
Hoffmeyer S et al.
American Journal of Human Genetics, 1998
Böddrich A et al.
Human Mutation, 1997
Upadhyaya M et al.
American Journal of Medical Genetics, 1996