Source: BEFREE ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886041347
rs886041347
NF1
0.710 GeneticVariation BEFREE The genetic analysis of our patient revealed neither mutation in the neurofibromatosis 1-guanosine triphosphatase-activating protein-related domain nor the R816X nonsense mutation. 12661943

2003