Evidence map›Paper›PMID 39301563›Full record

ArticleBiomedical reports2024

Autosomal recessive type of dystrophic epidermolysis bullosa with a novel variant in the COL7A1 gene.

Slavena Enkova Nikolova, Zornitsa Bogomilova Kamburova, Preslav Plamenov Vasilev, Katya Stefanova Kovacheva, Ivelina Asparuhova Yordanova

Abstract read
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In one paragraph

Article in Biomedical reports, 2024. 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

5 authors.

Slavena Enkova NikolovaDepartment of Medical Genetics, Medical University-Pleven, Center of Medical Genetics, 'Dr Georgi Stranski' University Hospital, 5800 Pleven, Bulgaria.
Zornitsa Bogomilova KamburovaDepartment of Medical Genetics, Medical University-Pleven, Center of Medical Genetics, 'Dr Georgi Stranski' University Hospital, 5800 Pleven, Bulgaria.
Preslav Plamenov VasilevDepartment of Dermatology, Venereology and Allergology, Medical University-Pleven, 'Dr Georgi Stranski' University Hospital, 5800 Pleven, Bulgaria.
Katya Stefanova KovachevaDepartment of Medical Genetics, Medical University-Pleven, Center of Medical Genetics, 'Dr Georgi Stranski' University Hospital, 5800 Pleven, Bulgaria.
Ivelina Asparuhova YordanovaDepartment of Dermatology, Venereology and Allergology, Medical University-Pleven, 'Dr Georgi Stranski' University Hospital, 5800 Pleven, Bulgaria.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Epidermolysis bullosa (EB) is an inherited skin condition whose hallmark is skin fragility caused by minimal trauma or friction. The dystrophic type of EB (DEB), accounting for 30% of all cases, is caused by mutations in the gene encoding type VII collagen α1 chain (

Indexed as

autosomal recessiveCOL7A1epidermolysis bullosagenetic counselingNGSnovel variant

Identifiers

PMID39301563
PMCPMC11411400

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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.