Evidence map›Paper›PMID 36977836›Full record

ArticleEuropean journal of human genetics : EJHG2023

Expanding the phenotype associated with biallelic SLC20A2 variants.

Gianluca D'Onofrio, Marcello Scala, Mariasavina Severino, Roberta Roberti, Ferruccio Romano, Patrizia De Marco, Michele Iacomino, Simona Baldassari, Paolo Uva, Marco Pavanello and 4 more

Abstract readComment
PubMed Full text at PMC Publisher
In one paragraph

Article in European journal of human genetics : EJHG, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing 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

5 citing papers in PubMed.

  1. Article
  2. A Novel Frameshift Mutation inBiomedicines · 2026
    Article
  3. Article
  4. BiombalanceAntioxidants (Basel, Switzerland) · 2025
    Article
  5. Rare Presentation of Homozygous SCase reports in genetics · 2025
    Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

14 authors.

Gianluca D'Onofrio *Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16132, Genoa, Italy.
Marcello Scala *Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16132, Genoa, Italy. mscala.md@gmail.com.ORCID 0000-0003-2194-7239
Mariasavina SeverinoNeuroradiology Unit, IRCCS Giannina Gaslini Institute, 16147, Genoa, Italy.
Roberta RobertiScience of Health Department, School of Medicine, Magna Græcia University, 88100, Catanzaro, Italy.
Ferruccio RomanoUnit of Medical Genetics, IRCCS Giannina Gaslini Institute, 16147, Genoa, Italy.
Patrizia De MarcoUnit of Medical Genetics, IRCCS Giannina Gaslini Institute, 16147, Genoa, Italy.
Michele IacominoUnit of Medical Genetics, IRCCS Giannina Gaslini Institute, 16147, Genoa, Italy.
Simona BaldassariUnit of Medical Genetics, IRCCS Giannina Gaslini Institute, 16147, Genoa, Italy.
Paolo UvaClinical Bioinformatics Unit, IRCCS Giannina Gaslini Institute, 16147, Genoa, Italy.
Marco PavanelloDepartment of Neurosurgery, IRCCS Giannina Gaslini Institute, 16147, Genoa, Italy.
Stefano GustincichDepartment of Neuroscience and Brain Technologies, Istituto Italiano di Tecnologia, 16163, Genoa, Italy.
Pasquale StrianoDepartment of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16132, Genoa, Italy.ORCID 0000-0002-6065-1476
Federico ZaraUnit of Medical Genetics, IRCCS Giannina Gaslini Institute, 16147, Genoa, Italy.
Valeria CapraUnit of Medical Genetics, IRCCS Giannina Gaslini Institute, 16147, Genoa, Italy. valeriacapra@gaslini.org.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

Brain DiseasesHumansMutationPhenotypeSodium-Phosphate Cotransporter Proteins, Type IIISLC20A2 protein, humanSodium-Phosphate Cotransporter Proteins, Type III

Identifiers

PMID36977836
PMCPMC10326077

What OpenQuestion holds

Textmetadata
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.