Case Report
Copyright ©The Author(s) 2025.
World J Clin Cases. Apr 6, 2025; 13(10): 101935
Published online Apr 6, 2025. doi: 10.12998/wjcc.v13.i10.101935
Table 2 Mutations detected in the patient by whole exome sequencing
Gene
Chromosome location
Variation
Homozygous/heterozygous
Pathogenicity
ABCG5chr2: 44050063c.1336C>T (p.Arg446Ter) HomozygousPathogenic
APOBchr2: 21252807c.1433G>A (p.Cys478Tyr) HeterozygoteUnknown
APOBchr2: 21228437c.11303T>C (p.Ile3768Thr) HeterozygoteUnknown