Evidence map›Paper›PMID 39273623›Full record

ArticleInternational journal of molecular sciences2024

A New De Novo Missense Variant of the

Miryam Rosa Stella Foti, Maria Giovanna Tedesco, Davide Colavito, Daniela Rogaia, Amedea Mencarelli, Monica Schippa, Cristina Gradassi, Rita Romani, Carmela Ardisia, Paolo Prontera

Abstract readCase Reports
In one paragraph

Article in International journal of molecular sciences, 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

10 authors.

Miryam Rosa Stella FotiUnità di Genetica Medica, Azienda Ospedaliera Sant'Anna, Dip. Scienze Mediche e Dip. Materno-Infantile, 44121 Ferrara, Italy.ORCID 0009-0002-0335-5862
Maria Giovanna TedescoIstituto Malattie Rare "Mauro Baschirotto", Costozza di Longare, 36100 Vicenza, Italy.ORCID 0009-0006-4790-6573
Davide ColavitoResearch & Innovation (R&I Genetics) Srl, 35100 Padova, Italy.
Daniela RogaiaUOSD Genetica Medica e Malattie Rare, Dip. Materno-Infantile, Azienda Ospedaliera di Perugia, 06129 Perugia, Italy.
Amedea MencarelliUOSD Genetica Medica e Malattie Rare, Dip. Materno-Infantile, Azienda Ospedaliera di Perugia, 06129 Perugia, Italy.
Monica SchippaUOSD Genetica Medica e Malattie Rare, Dip. Materno-Infantile, Azienda Ospedaliera di Perugia, 06129 Perugia, Italy.
Cristina GradassiUOSD Genetica Medica e Malattie Rare, Dip. Materno-Infantile, Azienda Ospedaliera di Perugia, 06129 Perugia, Italy.
Rita RomaniUOSD Genetica Medica e Malattie Rare, Dip. Materno-Infantile, Azienda Ospedaliera di Perugia, 06129 Perugia, Italy.ORCID 0000-0003-2612-9796
Carmela ArdisiaUOSD Genetica Medica e Malattie Rare, Dip. Materno-Infantile, Azienda Ospedaliera di Perugia, 06129 Perugia, Italy.
Paolo PronteraUOSD Genetica Medica e Malattie Rare, Dip. Materno-Infantile, Azienda Ospedaliera di Perugia, 06129 Perugia, Italy.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The etiology of neurodevelopmental disorders and epilepsy is very heterogeneous and partly still unknown, and the research of causative genes related to these diseases is still in progress. In 2020, pathogenic variants of the

Indexed as

EpilepsyMegalencephalyMutation, MissenseAdultDioxygenasesDNA-Binding ProteinsExome SequencingFemaleHumansPhenotypeDioxygenasesDNA-Binding ProteinsTET3 protein, humandysarthriaepilepsymacrocephalyTET3

Identifiers

PMID39273623
PMCPMC11395583

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.