Evidence map›Paper›PMID 30945685›Full record

ArticleJournal of genetics2019

A novel heterozygous duplication of the

Pavlos Fanis, Elisavet Efstathiou, Vassos Neocleous, Leonidas A Phylactou, Adamos Hadjipanayis

Abstract readCase Reports
PubMed
In one paragraph

Article in Journal of genetics, 2019. 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

5 authors.

Pavlos FanisDepartment of Molecular Genetics, Function and Therapy, The Cyprus Institute of Neurology and Genetics, P.O. Box 23462, 1683 Nicosia, Cyprus. adamos@paidiatros.com.
Elisavet Efstathiou
Vassos Neocleous
Leonidas A Phylactou
Adamos Hadjipanayis

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Gitelman syndrome is an autosomal recessive salt-wasting tubulopathy caused by mutations in the

Indexed as

Founder EffectGene DuplicationHeterozygoteChildChild, PreschoolFemaleGenetic TestingGitelman SyndromeHumansMalePedigreePhenotypePrognosisSolute Carrier Family 12, Member 3SLC12A3 protein, humanSolute Carrier Family 12, Member 3

Identifiers

PMID30945685

What OpenQuestion holds

Textmetadata
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.