In search of the Holy Grail: NF1 mutation analysis and genotype-phenotype correlation.
Viskochil
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D000483:Alleles; D018899:CpG Islands; D018076:DNA, Complementary / Q000378:metabolism; D005091:Exons; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics*; D009456:Neurofibromatosis 1 / Q000235:genetics*; D025542:Neurofibromin 1; D010641:Phenotype
D018076:DNA, Complementary; D009419:Nerve Tissue Proteins; D025542:Neurofibromin 1