Evidence map›Paper›PMID 34071626›Full record

ArticleDiagnostics (Basel, Switzerland)2021

Two Novel Mutations in the

Dagmar Prochazková, Romana Borská, Lenka Fajkusová, Petra Konečná, Eliška Hloušková, Zdeněk Pavlovský, Ondřej Slabý, Šárka Pospíšilová

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Diagnostics (Basel, Switzerland), 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.4field-weighted citation impact, top 38% of its field
1 · What the graph read from it

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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed, 4 citations in OpenAlex.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

8 authors at 3 institutions in 1 country.

Dagmar ProchazkováDepartment of Pediatrics, Faculty of Medicine, University Hospital Brno, Masaryk University, 625 00 Brno, Czech Republic.
Romana BorskáCenter of Molecular Biology and Genetics, Department of Internal Medicine, Hematology and Oncology, Faculty of Medicine, University Hospital Brno, Masaryk University, 625 00 Brno, Czech Republic.
Lenka FajkusováCenter of Molecular Biology and Genetics, Department of Internal Medicine, Hematology and Oncology, Faculty of Medicine, University Hospital Brno, Masaryk University, 625 00 Brno, Czech Republic.
Petra KonečnáDepartment of Pediatrics, Faculty of Medicine, University Hospital Brno, Masaryk University, 625 00 Brno, Czech Republic.
Eliška HlouškováDepartment of Pediatrics, Faculty of Medicine, University Hospital Brno, Masaryk University, 625 00 Brno, Czech Republic.
Zdeněk PavlovskýDepartment of Pathology, Faculty of Medicine, University Hospital Brno, Masaryk University, 625 00 Brno, Czech Republic.
Ondřej SlabýDepartment of Biology, Faculty of Medicine, Masaryk University, 625 00 Brno, Czech Republic.
Šárka PospíšilováDepartment of Clinical Genetics and Genomics, Faculty of Medicine, University Hospital Brno, Masaryk University, 625 00 Brno, Czech Republic.
Masaryk University · CZUniversity Hospital Brno · CZCentral European Institute of Technology · CZ

Funding

Ministerstvo Zdravotnictví Ceské Republiky FNB RVO 65269705Technology Agency of the Czech Republic TE02000058
6 · The paper itself

Abstract

backgroundAlagille syndrome (ALGS) is a highly variable multisystem disorder inherited in an autosomal dominant pattern with incomplete penetration. The disorder is caused by mutations in the

methodsMolecular-genetic examination of genes

resultsMutations in the

conclusionDiagnosis of the ALGS is complicated due to the absence of clear genotype-phenotype correlations and the extreme phenotypic variability in the patients even within the same family. This fact is of particular importance in connection to genetic counselling and prenatal genetic testing.

Indexed as

Alagille syndromecholestasisJAG1 genepediatric patients

Identifiers

PMID34071626
PMCPMC8230072
OpenAlexW3164533936

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.