Evidence map›Paper›PMID 41948752›Full record

ArticleClinical case reports2026

Aicardi-Goutières Syndrome Type 6: Case Report and Structural Prediction Supporting a Dominant-Negative Effect of the

Katerina Turan, Petra Pokorna, Kamila Rihova, Jana Kubatova, Katerina Kozelkova, Eliska Hlouskova, Pavlina Danhofer, Petr Jabandziev, Jiri Damborsky, Regina Demlova and 2 more

Abstract read
In one paragraph

Article in Clinical case reports, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

12 authors.

Katerina TuranDepartment of Pediatrics, Faculty of Medicine, University Hospital Brno Masaryk University Brno Czech Republic.
Petra PokornaCenter of Precision Medicine Masaryk University Brno Czech Republic.
Kamila RihovaCentral European Institute of Technology (CEITEC) Masaryk University Brno Czech Republic.
Jana KubatovaCREATIC, Faculty of Medicine Masaryk University Brno Czech Republic.
Katerina KozelkovaCentral European Institute of Technology (CEITEC) Masaryk University Brno Czech Republic.
Eliska HlouskovaCentral European Institute of Technology (CEITEC) Masaryk University Brno Czech Republic.
Pavlina DanhoferCenter of Precision Medicine Masaryk University Brno Czech Republic.
Petr JabandzievDepartment of Pediatrics, Faculty of Medicine, University Hospital Brno Masaryk University Brno Czech Republic.
Jiri DamborskyLoschmidt Laboratories, RECETOX, Faculty of Science Masaryk University Brno Czech Republic.
Regina DemlovaCREATIC, Faculty of Medicine Masaryk University Brno Czech Republic.
Ondrej SlabyCenter of Precision Medicine Masaryk University Brno Czech Republic.
Katerina SlabaDepartment of Pediatrics, Faculty of Medicine, University Hospital Brno Masaryk University Brno Czech Republic.ORCID https://orcid.org/0009-0004-0030-946X

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Aicardi-Goutières syndrome type 6 (AGS6) is a genetically determined autoinflammatory disorder, classically inherited in an autosomal recessive manner. We report a Czech child with a heterozygous

Indexed as

ADAR1Aicardi–Goutières syndrome type 6dominant‐negative effectstructural prediction

Identifiers

PMID41948752
PMCPMC13052057

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Registered trials

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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.