Varaico: Literature-Extracted Genetic Variants

Gene:ATP8B1
Variant:p.I694N
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ATP8B1

NM_001374385.1:p.I694N

Associated Papers

Long-Term Results of Pediatric Liver Transplantation for Progressive Familial Intrahepatic Cholestasis.

Hang C et al.

Journal of Clinical Medicine, 2022

36012923 (PubMed )
Supplement: jcm-11-04684-s001.zip › jcm-1802822-Table_S1.xlsx › Table_S1

Impact of Genotype, Serum Bile Acids, and Surgical Biliary Diversion on Native Liver Survival in FIC1 Deficiency.

van Wessel DBE et al.

Hepatology (baltimore, Md.), 2021

33666275 (PubMed )
Supplement: HEP-74-892-s001.pdf

Molecular findings in children with inherited intrahepatic cholestasis.

Wang NL et al.

Pediatric Research, 2020

[Clinical feature and ATP8B1 mutation analysis of a patient with progressive familial intrahepatic cholestasis type I].

Cheng Y et al.

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2016

The Features of GGT in Patients with ATP8B1 or ABCB11 Deficiency Improve the Diagnostic Efficiency.

Wang NL et al.

Plos One, 2016

Hypothyroidism Associated with ATP8B1 Deficiency.

Li L et al.

The Journal of Pediatrics, 2015

Characterization of ATP8B1 gene mutations and a hot-linked mutation found in Chinese children with progressive intrahepatic cholestasis and low GGT.

Liu LY et al.

Journal of Pediatric Gastroenterology and Nutrition, 2010

Linkage between a new splicing site mutation in the MDR3 alias ABCB4 gene and intrahepatic cholestasis of pregnancy.

Schneider G et al.

Hepatology (baltimore, Md.), 2007

FIC1 and BSEP defects in Taiwanese patients with chronic intrahepatic cholestasis with low gamma-glutamyltranspeptidase levels.

Chen HL et al.

The Journal of Pediatrics, 2002

Benign Recurrent Intrahepatic Cholestasis Type 1 with Novel Gene Mutation Complicated by Distal Renal Tubular Acidosis: A Case Report.

Vo VH et al.

Case Reports in Gastroenterology, 0

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