Evidence map›Paper›PMID 35592045›Full record

ArticleClinical case reports2022

A rare homozygous p.Arg87Trp variant of the

Houweyda Jilani, Faten Hsoumi, Imen Rejeb, Yasmina Elaribi, Syrine Hizem, Molka Sebai, Arndt Rolfs, Lamia Benjemaa

Open access · goldAbstract readCase Reports
In one paragraph

Article in Clinical case reports, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.5field-weighted citation impact, top 38% 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

2 citing papers in PubMed, 4 citations in OpenAlex.

  1. Article
  2. A rare homozygous p.Arg87Trp variant of theClinical case reports · 2022
    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

8 authors at 3 institutions in 2 countries.

Houweyda JilaniGenetic Department Mongi Slim Hospital Marsa, Tunis Tunisia.ORCID https://orcid.org/0000-0002-7433-0294
Faten HsoumiGenetic Department Mongi Slim Hospital Marsa, Tunis Tunisia.
Imen RejebGenetic Department Mongi Slim Hospital Marsa, Tunis Tunisia.
Yasmina ElaribiGenetic Department Mongi Slim Hospital Marsa, Tunis Tunisia.
Syrine HizemGenetic Department Mongi Slim Hospital Marsa, Tunis Tunisia.
Molka SebaiGenetic Department Mongi Slim Hospital Marsa, Tunis Tunisia.
Arndt RolfsCENTOGENE AG Rostock Germany.
Lamia BenjemaaGenetic Department Mongi Slim Hospital Marsa, Tunis Tunisia.
Tunis University · TNHôpital Mongi Slim · TNCentogene (Germany) · DE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Gaucher disease (GD) is a rare metabolic disorder due to pathogenic variants in the

Indexed as

Gaucher diseaseGBA genep.Arg87TrpR48Wrare pathogenic variant

Identifiers

PMID35592045
PMCPMC9097371
OpenAlexW4280537124

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.