Evidence map›Paper›PMID 39877728›Full record

ArticleJBMR plus2025

A deep intronic

Laura Koponen, Minna Pekkinen, Jelmer Legebeke, Mari Muurinen, Salla Rusanen, Shabir Hussain, Fan Wang, Pasi I Nevalainen, Outi Mäkitie

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in JBMR plus, 2025. 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
–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

1 citing paper in PubMed.

  1. Case Report: Deep intronicFrontiers in endocrinology · 2026
    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

9 authors.

Laura KoponenResearch Program for Clinical and Molecular Metabolism, Faculty of Medicine, University of Helsinki, Helsinki 00014, Finland.ORCID https://orcid.org/0000-0001-8971-4306
Minna PekkinenResearch Program for Clinical and Molecular Metabolism, Faculty of Medicine, University of Helsinki, Helsinki 00014, Finland.ORCID https://orcid.org/0000-0003-2947-4683
Jelmer LegebekeDepartment of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm 17177, Sweden.ORCID https://orcid.org/0000-0003-1194-8959
Mari MuurinenResearch Program for Clinical and Molecular Metabolism, Faculty of Medicine, University of Helsinki, Helsinki 00014, Finland.
Salla RusanenFolkhälsan Research Center, Helsinki 00290, Finland.ORCID https://orcid.org/0000-0002-9197-1288
Shabir HussainResearch Program for Clinical and Molecular Metabolism, Faculty of Medicine, University of Helsinki, Helsinki 00014, Finland.ORCID https://orcid.org/0000-0001-5744-4292
Fan WangDepartment of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm 17177, Sweden.ORCID https://orcid.org/0000-0003-4888-8793
Pasi I NevalainenRare Diseases Unit and Endocrine Unit, Department of Internal Medicine, Tampere University Hospital, and Faculty of Medicine and Health Technology, Tampere University, Tampere 33101, Finland.ORCID https://orcid.org/0000-0002-7397-6122
Outi MäkitieResearch Program for Clinical and Molecular Metabolism, Faculty of Medicine, University of Helsinki, Helsinki 00014, Finland.ORCID https://orcid.org/0000-0002-4547-001X

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Hypophosphatemic rickets is a rare bone disease characterized by short stature, bone deformities, impaired bone mineralization, and dental problems. Most commonly, hypophosphatemic rickets is caused by pathogenic variants in the X-chromosomal

Indexed as

genetic skeletal disordersnext generation sequencing (NGS)splicingtranscriptomicswhole genome sequencingXLH

Identifiers

PMID39877728
PMCPMC11772523

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.