https://www.selleckchem.com/pr....oducts/pf-04965842.h
WES has improved the detection rate of genetic variants and provided a solid basis for genetic counseling of the affected families. To explore the genetic basis for a patient with clinically suspected neurofibromatosis type I, alopecia areata and vitiligo. Variant of the NF1 gene was detected by chip capture and high-throughput sequencing. Candidate variant was verified by Sanger sequencing of the family trio. The patient was found to harbor a novel missense c.1885GA (p.Gly629Arg) variant of the NF1 gene, for which neither paren