Application of nanopore sequencing in identifying null mutations and intragenic copy number variations (CNVs) in FLG

Lin, YC; Chang, YH; Chiu, FPC; Akiyama, M; Hsu, CK

Hsu, CK (通讯作者),Natl Cheng Kung Univ, Natl Cheng Kung Univ Hosp, Coll Med, Dept Dermatol, 138 Sheng Li Rd, Tainan, Taiwan.

JOURNAL OF DERMATOLOGICAL SCIENCE, 2022; 108 (1): 48