Evidence map›Paper›PMID 40160294›Full record

ArticleFrontiers in genetics2025

Case report: Novel homozygous

Akash Mathavan, Akshay Mathavan, Urszula Krekora, Adityanarayan Rao, Marc S Zumberg, Jeb Justice, Pinar Bayrak-Toydemir, Jamie McDonald, Ali Ataya

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in 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

9 authors.

Akash MathavanDepartment of Internal Medicine, University of Florida, Gainesville, FL, United States.
Akshay MathavanDepartment of Internal Medicine, University of Florida, Gainesville, FL, United States.
Urszula KrekoraCollege of Medicine, University of Florida, Gainesville, FL, United States.
Adityanarayan RaoDepartment of Internal Medicine, University of Florida, Gainesville, FL, United States.
Marc S ZumbergDivision of Hematology/Oncology, University of Florida, Gainesville, FL, United States.
Jeb JusticeDepartment of Otolaryngology Head and Neck Surgery, University of Florida, Gainesville, FL, United States.
Pinar Bayrak-ToydemirDepartment of Pathology, University of Utah, Salt Lake City, UT, United States.
Jamie McDonaldDepartment of Pathology, University of Utah, Salt Lake City, UT, United States.
Ali AtayaDivision of Pulmonary, Critical Care, and Sleep Medicine, University of Florida, Gainesville, FL, United States.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular disorder caused by pathogenic variants in genes within the transforming growth factor beta (TGF-β) signaling pathway, such as

Indexed as

ACVRL1 gene mutationgenotype–phenotype correlationhereditary hemorrhagic telangiectasiahypomorphic allelepulmonary arteriovenous malformations

Identifiers

PMID40160294
PMCPMC11949910

What OpenQuestion holds

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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.