Evidence map›Paper›PMID 41482699›Full record

ArticleClinical genetics2026

Unusual Disease-Progression in Two Siblings With Xeroderma Pigmentosum Group G.

Elena Botta, Heather Fawcett, Donata Orioli, Hiva Fassihi, Alan R Lehmann

Abstract readCase Reports
In one paragraph

Article in Clinical genetics, 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

5 authors.

Elena BottaInstitute of Molecular Genetics-CNR, Pavia, Italy.ORCID 0000-0003-2060-0110
Heather FawcettGenome Damage and Stability Centre, University of Sussex, Brighton, UK.
Donata OrioliInstitute of Molecular Genetics-CNR, Pavia, Italy.ORCID 0000-0002-3830-3408
Hiva FassihiNational Xeroderma Pigmentosum Service, GSTT-NHS Foundation Trust, London, UK.ORCID 0000-0002-2601-1715
Alan R LehmannGenome Damage and Stability Centre, University of Sussex, Brighton, UK.ORCID 0000-0002-1269-8309

Funding

Fondazione AIRC per la ricerca sul cancro ETS IG2023-Id29412NHS England
6 · The paper itself

Abstract

Protein truncation mutations in the gene for XPG nuclease cause a very severe clinical phenotype. Two siblings have splicing mutations, which result in in-frame deletions and a less severe phenotype.

Indexed as

DNA-Binding ProteinsEndonucleasesNuclear ProteinsTranscription FactorsXeroderma PigmentosumDisease ProgressionFemaleHumansMaleMutationPhenotypeSiblingsDNA-Binding ProteinsEndonucleasesNuclear ProteinsTranscription Factors

Identifiers

PMID41482699
PMCPMC13066754

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.