Evidence map›Paper›PMID 35498405›Full record

ArticleFrontiers in endocrinology2022

Characterization of Genetic Variants of Uncertain Significance for the

Raquel Sanabria-de la Torre, Luis Martínez-Heredia, Sheila González-Salvatierra, Francisco Andújar-Vera, Iván Iglesias-Baena, Juan Miguel Villa-Suárez, Victoria Contreras-Bolívar, Mario Corbacho-Soto, Gonzalo Martínez-Navajas, Pedro J Real and 3 more

Open access · goldAbstract read
In one paragraph

Article in Frontiers in endocrinology, 2022. 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
0.6field-weighted citation impact, top 33% 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

5 citing papers in PubMed, 6 citations in OpenAlex.

  1. Review
  2. Revisiting the Genetics of Hypophosphatasia.Journal of inherited metabolic disease · 2025
    Review
  3. Article
  4. Article
  5. Review
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

13 authors at 5 institutions in 1 country.

Raquel Sanabria-de la TorreDepartment of Medicine, University of Granada, Granada, Spain.
Luis Martínez-HerediaDepartment of Medicine, University of Granada, Granada, Spain.
Sheila González-SalvatierraDepartment of Medicine, University of Granada, Granada, Spain.
Francisco Andújar-VeraInstituto de Investigación Biosanitaria de Granada, Granada, Spain.
Iván Iglesias-BaenaEuropean University Miguel de Cervantes, Valladolid, Spain.
Juan Miguel Villa-SuárezInstituto de Investigación Biosanitaria de Granada, Granada, Spain.
Victoria Contreras-BolívarInstituto de Investigación Biosanitaria de Granada, Granada, Spain.
Mario Corbacho-SotoDepartment of Medicine, University of Granada, Granada, Spain.
Gonzalo Martínez-NavajasGene Regulation, Stem Cells and Development Lab, Pfizer-University of Granada-Junta de Andalucía Centre for Genomics and Oncological Research (GENYO), Granada, Spain.
Pedro J RealInstituto de Investigación Biosanitaria de Granada, Granada, Spain.
Cristina García-FontanaInstituto de Investigación Biosanitaria de Granada, Granada, Spain.
Manuel Muñoz-TorresDepartment of Medicine, University of Granada, Granada, Spain.
Beatriz García-FontanaInstituto de Investigación Biosanitaria de Granada, Granada, Spain.
Instituto de Investigación Biosanitaria de Granada · ESUniversidad de Granada · ESCentro de Investigación Biomédica en Red de Fragilidad y Envejecimiento Saludable · ESPfizer-University of Granada-Junta de Andalucía Centre for Genomics and Oncological Research · ESUniversidad Europea Miguel de Cervantes · ES

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Hypophosphatasia (HPP) a rare disease caused by mutations in the

Indexed as

HypophosphatasiaAlkaline PhosphataseGenotypeHeterozygoteHumansPhenotypeAlkaline PhosphataseALPL protein, humanalkaline phosphataseboneenzymatic activitygenetic varianthypophosphatasiamineralizationpyridoxal 5´ phosphate

Identifiers

PMID35498405
PMCPMC9047899
OpenAlexW4223908801

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.