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©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
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 |
ATP8B1 | chr18:55351308-55351311 | NM_005603; exon15 | c.1587_1589delCTT (p.F529del) | Het | 0.0001 | Likely pathogenic |
- Citation: Xu YX, Niu XX, Xu BL, Ji Y, Yao QY. Diagnosis and management of benign recurrent intrahepatic cholestasis and psychosocial stressors in an adolescent: A case report. World J Clin Cases 2024; 12(20): 4427-4433
- URL: https://www.wjgnet.com/2307-8960/full/v12/i20/4427.htm
- DOI: https://dx.doi.org/10.12998/wjcc.v12.i20.4427