Evidence map›Paper›PMID 37504252›Full record

ArticleCurrent issues in molecular biology2023

Whole-Exome Sequencing Identified Two Novel Pathogenic Mutations in the

Margit Pál, Éva Vetró, Nikoletta Nagy, Dóra Nagy, Emese Horváth, Barbara Anna Bokor, Anita Varga, László Seres, Judit Oláh, József Piffkó and 1 more

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

Article in Current issues in molecular biology, 2023. 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
0.5field-weighted citation impact, top 33% 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, 3 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

11 authors at 2 institutions in 2 countries.

Margit PálDepartment of Medical Genetics, University of Szeged, 6720 Szeged, Hungary.ORCID 0000-0003-3662-0837
Éva VetróDepartment of Oral and Maxillofacial Surgery, University of Szeged, 6725 Szeged, Hungary.
Nikoletta NagyDepartment of Medical Genetics, University of Szeged, 6720 Szeged, Hungary.ORCID 0000-0001-8576-7953
Dóra NagyDepartment of Medical Genetics, University of Szeged, 6720 Szeged, Hungary.ORCID 0000-0002-6224-1972
Emese HorváthDepartment of Medical Genetics, University of Szeged, 6720 Szeged, Hungary.
Barbara Anna BokorDepartment of Medical Genetics, University of Szeged, 6720 Szeged, Hungary.
Anita VargaDepartment of Dermatology and Allergology, University of Szeged, 6720 Szeged, Hungary.
László SeresDepartment of Oral and Maxillofacial Surgery, University of Szeged, 6725 Szeged, Hungary.
Judit OláhDepartment of Dermatology and Allergology, University of Szeged, 6720 Szeged, Hungary.
József PiffkóDepartment of Oral and Maxillofacial Surgery, University of Szeged, 6725 Szeged, Hungary.
Márta SzéllDepartment of Medical Genetics, University of Szeged, 6720 Szeged, Hungary.
University of Szeged · HUJohannes Kepler University of Linz · AT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Basal cell nevus syndrome (BCNS, OMIM 109400) is a familial cancer syndrome characterized by the development of numerous basal cell cancers and various other developmental abnormalities, including epidermal cysts of the skin, calcified dural folds, keratocysts of the jaw, palmar and plantar pits, ovarian fibromas, medulloblastomas, lymphomesenteric cysts, and fetal rhabdomyomas. BCNS shows autosomal dominant inheritance and is caused by mutations in the patched 1 (

Indexed as

basal cell nevus syndromeGorlin syndromemissing heritabilitymultiplex ligation-dependent probe amplificationwhole-exome sequencing

Identifiers

PMID37504252
PMCPMC10378406
OpenAlexW4382023234

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.