Evidence map›Paper›PMID 33193651›Full record

ArticleFrontiers in genetics2020

A Recurrent Pathogenic Variant of

Adele D'Amico, Fabiana Fattori, Francesco Nicita, Sabina Barresi, Giorgio Tasca, Margherita Verardo, Simone Pizzi, Isabella Moroni, Francesca De Mitri, Annalia Frongia and 4 more

Open access · goldAbstract read
In one paragraph

Article in Frontiers in genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
0.6field-weighted citation impact, top 34% 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

8 citing papers in PubMed, 11 citations in OpenAlex.

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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 at 4 institutions in 1 country.

Adele D'AmicoUnit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Fabiana FattoriUnit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Francesco NicitaUnit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Sabina BarresiGenetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.
Giorgio TascaUnità Operativa Complessa di Neurologia, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.
Margherita VerardoGenetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.
Simone PizziGenetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.
Isabella MoroniChild Neurology Unit, Foundation IRCCS Neurological Institute "C. Besta", Milan, Italy.
Francesca De MitriUnit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Annalia FrongiaPediatric Neurology Unit, Catholic University and Nemo Center, Rome, Italy.
Marika PanePediatric Neurology Unit, Catholic University and Nemo Center, Rome, Italy.
Eugenio MercuriPediatric Neurology Unit, Catholic University and Nemo Center, Rome, Italy.
Marco TartagliaGenetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.
Enrico BertiniUnit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Bambino Gesù Children's Hospital · ITIstituti di Ricovero e Cura a Carattere Scientifico · ITCentro Clinico Nemo · ITAgostino Gemelli University Polyclinic · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Inositol polyphosphate-5-phosphatase K [

Indexed as

cataractCMDINPP5KLGMDshort stature

Identifiers

PMID33193651
PMCPMC7530278
OpenAlexW3087362402

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.