Evidence map›Paper›PMID 41821755›Full record

ArticleBiomedical reports2026

Description of the novel variant c.784delG;p. (Ala262Profs*68) at

Jéssica Hilário Bonomo, Lívia Cláudio De Oliveira, Maria Do Carmo Sorci Dias Scher, Anderson Ferreira Da Cunha, Amélia Trindade

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Biomedical reports, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

5 authors.

Jéssica Hilário BonomoLaboratory of Biochemistry and Applied Genetics, Department of Genetics and Evolution, Center for Biological and Health Sciences, Federal University of São Carlos, São Carlos, São Paulo 13565-905, Brazil.
Lívia Cláudio De OliveiraUnit of Ambulatory Pediatrics, University Hospital of Brasilia, University of Brasilia, Brasilia 70840-901, Brazil.
Maria Do Carmo Sorci Dias ScherMedicine course, University Center of Brasilia (UniCEUB), Brasilia 70790-075, Brazil.
Anderson Ferreira Da CunhaLaboratory of Biochemistry and Applied Genetics, Department of Genetics and Evolution, Center for Biological and Health Sciences, Federal University of São Carlos, São Carlos, São Paulo 13565-905, Brazil.
Amélia TrindadeDepartment of Medicine, Center for Biological and Health Sciences, Federal University of São Carlos, São Carlos, São Paulo, 13565-905, Brazil.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Bartter syndrome (BS) is a group of diseases caused by variants in genes related to salt reabsorption in the thick ascending limb of the loop of Henle. It causes dysregulation in salt homeostasis and is characterized by hyperplasia and hypertrophy of the juxtaglomerular apparatus, hyperaldosteronism, hypokalemic alkalosis and impaired growth and development. BS type IVa is caused by variants in

Indexed as

genetic disorderhearing impairmentinner ear functionion transportmembrane channelmolecular diagnosisrenal dysfunction

Identifiers

PMID41821755
PMCPMC12976826

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.