Evidence map›Paper›PMID 39628969›Full record

ArticleJournal of medicine and life2024

A homozygous nonsense mutation identified in

Muhammad Ayub, Xing Xiong, Saima Anwer, Janine Altmüller, Muhammad Naeem, Noor Hassan, Kafaitullah Khan, Susanne Motameny, Samira Khaliq, Fazal Ur Rehman and 4 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of medicine and life, 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

14 authors.

Muhammad AyubInstitute of Biochemistry, University of Balochistan, Quetta, Pakistan.
Xing XiongInstitute of Human Genetics, Medical Faculty & University Hospital Bonn, University of Bonn, Bonn, Germany.
Saima AnwerInstitute of Biochemistry, University of Balochistan, Quetta, Pakistan.
Janine AltmüllerCologne Center for Genomics, University of Cologne, Cologne, Germany.
Muhammad NaeemInstitute of Biochemistry, University of Balochistan, Quetta, Pakistan.
Noor HassanInstitute of Biochemistry, University of Balochistan, Quetta, Pakistan.
Kafaitullah KhanDepartment of Microbiology, University of Balochistan, Quetta, Pakistan.
Susanne MotamenyCologne Center for Genomics, University of Cologne, Cologne, Germany.
Samira KhaliqInstitute of Biochemistry, University of Balochistan, Quetta, Pakistan.
Fazal Ur RehmanDepartment of Microbiology, University of Balochistan, Quetta, Pakistan.
Syed Ashraf UddinInstitute of Biochemistry, University of Balochistan, Quetta, Pakistan.
Abdul WaliUniversity of Information Technology and Management Sciences, Quetta, Pakistan.
Regina BetzInstitute of Human Genetics, Medical Faculty & University Hospital Bonn, University of Bonn, Bonn, Germany.
Sulman BasitCenter for Genetics and Inherited Diseases, Taibah University Almadinah, Medina, Kingdom of Saudi Arabia.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Autosomal recessive dystrophic epidermolysis bullosa (RDEB) is a severe form of an inherited skin disorder. RDEB segregates both in an autosomal dominant as well as in an autosomal recessive pattern. It has been shown that both forms of dystrophic epidermolysis bullosa (DEB) are caused by mutations in the

Indexed as

Collagen Type VIIEpidermolysis Bullosa DystrophicaCodon, NonsenseConsanguinityExome SequencingGenes, RecessiveHomozygoteHumansPedigreeCodon, NonsenseCOL7A1 protein, humanCollagen Type VIICOL7A1 geneepidermolysis bullosanonsense mutationwhole exome sequencing

Identifiers

PMID39628969
PMCPMC11611058

What OpenQuestion holds

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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.