Evidence map›Paper›PMID 39099563›Full record

ArticleClinical kidney journal2024

Pathogenic heterozygous TRPM7 variants and hypomagnesemia with developmental delay.

Willem Bosman, Kameryn M Butler, Caitlin A Chang, Mythily Ganapathi, Edwin Guzman, Femke Latta, Wendy K Chung, Felix Claverie-Martin, Jessica M Davis, Joost G J Hoenderop and 1 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Clinical kidney journal, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing 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

3 citing papers in PubMed.

  1. Article
  2. Review
  3. 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

11 authors.

Willem BosmanDepartment of Medical BioSciences, Radboudumc, Nijmegen, The Netherlands.
Kameryn M ButlerGreenwood Genetic Center, Greenwood, SC, USA.
Caitlin A ChangDepartment of Medical Genetics, BC Women and Children's Hospital, Vancouver, British Columbia, Canada.
Mythily GanapathiDepartment of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, NY, USA.
Edwin GuzmanDepartment of Pediatrics, Columbia University Irving Medical Center, New York, NY, USA.
Femke LattaDepartment of Medical BioSciences, Radboudumc, Nijmegen, The Netherlands.
Wendy K ChungDepartment of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.
Felix Claverie-MartinUnidad de Investigación, RenalTube Group, Hospital Universitario Nuestra Señora de Candelaria, Santa Cruz de Tenerife, Spain.
Jessica M DavisGreenwood Genetic Center, Greenwood, SC, USA.
Joost G J HoenderopDepartment of Medical BioSciences, Radboudumc, Nijmegen, The Netherlands.ORCID https://orcid.org/0000-0002-1816-8544
Jeroen H F de BaaijDepartment of Medical BioSciences, Radboudumc, Nijmegen, The Netherlands.ORCID https://orcid.org/0000-0003-2372-8486

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Heterozygous variants in Methods: Individuals with unexplained hypomagnesemia underwent whole-exome sequencing which identified Results: We report three new heterozygous missense variants in Conclusions: This study provides additional evidence for the association between heterozygous

Indexed as

autism spectrum disorderdevelopmental delaygeneticshypomagnesemiaTRPM7

Identifiers

PMID39099563
PMCPMC11295107

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.