Evidence map›Paper›PMID 42079344›Full record

ArticleHuman mutation2026

X-Linked Hypophosphatemia Caused by a New Partial Insertion of LINE-1 in the

Dongmei Li, Wan Peng, Lu Kang, Jia Geng, Yu Lu, Jing Lu

Abstract readCase Reports
In one paragraph

Article in Human mutation, 2026. 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. 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

6 authors.

Dongmei LiDepartment of Pediatric Nephrology, West China Second University Hospital, Sichuan University, Chengdu, China, scu.edu.cn.ORCID https://orcid.org/0009-0005-3687-2294
Wan PengInstitute of Rare Diseases, West China Hospital, Sichuan University, Chengdu, China, scu.edu.cn.ORCID https://orcid.org/0009-0002-4866-2663
Lu KangInstitute of Rare Diseases, West China Hospital, Sichuan University, Chengdu, China, scu.edu.cn.ORCID https://orcid.org/0000-0002-4845-0823
Jia GengInstitute of Rare Diseases, West China Hospital, Sichuan University, Chengdu, China, scu.edu.cn.ORCID https://orcid.org/0000-0001-8443-7231
Yu LuInstitute of Rare Diseases, West China Hospital, Sichuan University, Chengdu, China, scu.edu.cn.ORCID https://orcid.org/0009-0002-2515-9686
Jing LuDepartment of Pediatric Nephrology, West China Second University Hospital, Sichuan University, Chengdu, China, scu.edu.cn.ORCID https://orcid.org/0000-0001-6606-8460

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

X-linked hypophosphatemia (XLH), primarily caused by mutations of the

Indexed as

Familial Hypophosphatemic RicketsLong Interspersed Nucleotide ElementsMutagenesis, InsertionalPHEX Phosphate Regulating Neutral EndopeptidaseBase SequenceChild, PreschoolExonsFibroblast Growth Factor-23HumansMaleMutationFGF23 protein, humanFibroblast Growth Factor-23PHEX Phosphate Regulating Neutral EndopeptidasePHEX protein, humanfibroblast growth factor 23 (FGF23)insertionlong interspersed element-1 (LINE-1)phosphate-regulating endopeptidase homolog X-linked gene (PHEX)X-linked hypophosphatemia (XLH)

Identifiers

PMID42079344
PMCPMC13129501

What OpenQuestion holds

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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.