Evidence map›Paper›PMID 34360843›Full record

ArticleInternational journal of molecular sciences2021

A Novel Genetic Variant in the WFS1 Gene in a Patient with Partial Uniparental Mero-Isodisomy of Chromosome 4.

Maurizio Delvecchio, Federica Ortolani, Orazio Palumbo, Concetta Aloi, Alessandro Salina, Francesco Claudio Susca, Pietro Palumbo, Massimo Carella, Nicoletta Resta, Elvira Piccinno

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PubMed Full text at PMC Publisher
In one paragraph

Article in International journal of molecular sciences, 2021. 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
0.2field-weighted citation impact, top 52% 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, 2 citations in OpenAlex.

  1. New Advances in Diabetes Genetics.International journal of molecular sciences · 2023
    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

10 authors at 4 institutions in 1 country.

Maurizio DelvecchioMetabolic Disease and Genetics Disorders Unit, Giovanni XXIII Children's Hospital, 70126 Bari, Italy.ORCID 0000-0002-1528-0012
Federica OrtolaniMetabolic Disease and Genetics Disorders Unit, Giovanni XXIII Children's Hospital, 70126 Bari, Italy.
Orazio PalumboMedical Genetics Unit, IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo (FG), Italy.ORCID 0000-0001-6583-3482
Concetta AloiClinica Pediatrica, LABSIEM, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.
Alessandro SalinaClinica Pediatrica, LABSIEM, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.
Francesco Claudio SuscaDepartment of Biomedical Sciences and Human Oncology (DIMO), Division of Medical Genetics, University of Bari "Aldo Moro", 70125 Bari, Italy.
Pietro PalumboMedical Genetics Unit, IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo (FG), Italy.ORCID 0000-0001-9498-9902
Massimo CarellaMedical Genetics Unit, IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo (FG), Italy.ORCID 0000-0002-6830-6829
Nicoletta RestaDepartment of Biomedical Sciences and Human Oncology (DIMO), Division of Medical Genetics, University of Bari "Aldo Moro", 70125 Bari, Italy.ORCID 0000-0001-8640-5532
Elvira PiccinnoMetabolic Disease and Genetics Disorders Unit, Giovanni XXIII Children's Hospital, 70126 Bari, Italy.
Casa Sollievo della Sofferenza · ITOspedale Pediatrico Giovanni XXIII · ITIstituto Giannina Gaslini · ITUniversity of Bari Aldo Moro · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Wolfram syndrome is a rare autosomal recessive disorder characterized by optic atrophy and diabetes mellitus. Wolfram syndrome type 1 (WFS1) is caused by bi-allelic pathogenic variations in the

Indexed as

Chromosomes, Human, Pair 4Mutation, MissenseUniparental DisomyFemaleHumansMembrane ProteinsWolfram SyndromeYoung AdultMembrane Proteinswolframin proteinchrosome 4syndromic diabetesuniparental disomywolframinWolfram syndrome

Identifiers

PMID34360843
PMCPMC8348440
OpenAlexW3192337210

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.