Case Report
Copyright ©The Author(s) 2024.
World J Clin Cases. Jul 16, 2024; 12(20): 4427-4433
Published online Jul 16, 2024. doi: 10.12998/wjcc.v12.i20.4427
Table 1 Genetic testing findings for ATP8B1 mutation
Gene
Chromosomal location
Transcription exons
Nucleotide amino acid
Hom/Het
Normal frequency
Pathogenicity analysis
ATP8B1chr18:55351308-55351311NM_005603; exon15c.1587_1589delCTT (p.F529del)Het0.0001Likely pathogenic