ArticleHepatology communications2019
Recessive Mutations in
Article in Hepatology communications, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
17 citing papers in PubMed, 34 citations in OpenAlex.
- Use of Next-Generation Sequencing and Whole-Exome Sequencing in the Diagnosis of Adult-Onset Familial Intrahepatic Cholestasis: Challenges in Interpreting Variants of Uncertain Significance.Diagnostics (Basel, Switzerland) · 2026Review
- Cholestatic liver disease in an adolescent: don't forget progressive familial intrahepatic Cholestasis-8.Oxford medical case reports · 2026Article
- Challenges in the diagnosis and treatment of genetic cholestasis in adults.JHEP reports : innovation in hepatology · 2026Review
- Genotypes and different clinical variants between children and adults in progressive familial intrahepatic cholestasis: a state-of-the-art review.Orphanet journal of rare diseases · 2025Review
- [Progress in the treatment of progressive familial intrahepatic cholestasis].Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology · 2024Review
- Diagnostic yield and novel candidate genes by next generation sequencing in 166 children with intrahepatic cholestasis.Hepatology international · 2024Article
- Genetics of liver disease in adults.Hepatology communications · 2024Review
- Opinion paper on the diagnosis and treatment of progressive familial intrahepatic cholestasis.JHEP reports : innovation in hepatology · 2024Article
- Transcript selection for the genetic diagnosis ofGastroenterology report · 2024Article
- Hepatology Genome Rounds: An interdisciplinary approach to integrate genomic data into clinical practice.Journal of hepatology · 2023Review
- Spatio-Temporal Expression Pattern of CAKUT Candidate GenesBiomolecules · 2023Article
- Review
- Genetic alterations and molecular mechanisms underlying hereditary intrahepatic cholestasis.Frontiers in pharmacology · 2023Review
- Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease.PloS one · 2023Article
- Review
- 'Kinesinopathies': emerging role of the kinesin family member genes in birth defects.Journal of medical genetics · 2020Review
- Exome Sequencing in Clinical Hepatology.Hepatology (Baltimore, Md.) · 2019Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 4 institutions in 2 countries.
Funding
Abstract
Undiagnosed liver disease remains an unmet medical need in pediatric hepatology, including children with high gamma-glutamyltransferase (GGT) cholestasis. Here, we report whole-exome sequencing of germline DNA from 2 unrelated children, both offspring of consanguineous union, with neonatal cholestasis and high GGT of unclear etiology. Both children had a rare homozygous damaging mutation (p.Arg219* and p.Val204Met) in kinesin family member 12 (
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.