Evidence map›Paper›PMID 40756583›Full record

ArticleThe application of clinical genetics2025

A Unique Complex Variation Profile in a Patient with Familial Mediterranean Fever (FMF): Triple Homozygous E148Q-P369S-R408Q - "Case Report".

Nour Abi Chakra, Nadine Yazbeck, Mohammad Omar Fattah, Rima Hanna-Wakim

Abstract readCase Reports
In one paragraph

Article in The application of clinical genetics, 2025. 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

4 authors.

Nour Abi Chakra *American University of Beirut, Beirut, Lebanon.
Nadine Yazbeck *Department of Pediatrics and Adolescent Medicine, American University of Beirut, Beirut, Lebanon.ORCID 0000-0002-2325-4113
Mohammad Omar FattahMilitary Hospital, Beirut, Lebanon.
Rima Hanna-WakimDepartment of Pediatrics and Adolescent Medicine, American University of Beirut, Beirut, Lebanon.ORCID 0000-0002-8870-2159

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Familial Mediterranean fever (FMF) is an inherited autoinflammatory disorder resulting in recurrent fever, polyserositis, and arthralgias. It is caused by mutations in the

Indexed as

complex variation profileE148Q-P369S-R408Qfamilial Mediterranean fevertriple homozygous

Identifiers

PMID40756583
PMCPMC12317695

What OpenQuestion holds

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Registered trials

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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.