Evidence map›Paper›PMID 40725383›Full record

ArticleGenes2025

Novel Pathogenic Variant c.258A>C, p.(Glu86Asp) in the

Zornitsa Pavlova, Sashka Zhelyazkova, Mariana Gospodinova, Anastasia Ormandjieva, Tihomir Todorov, Ognian Asenov, Teodora Chamova, Plamen Antimov, Dilyana Mikova, Yordan Palashev and 2 more

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

Article in Genes, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. 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

12 authors.

Zornitsa PavlovaIndependent Medico-Diagnostic Laboratory Genome Center "Bulgaria", 1612 Sofia, Bulgaria.ORCID 0000-0001-9753-2836
Sashka ZhelyazkovaDepartment of Neurology, Expert Centre for Hereditary Neurologic and Metabolic Disorders, University Hospital "Alexandrovska", Medical University of Sofia, 1431 Sofia, Bulgaria.ORCID 0000-0001-5295-6774
Mariana GospodinovaExpert Center for Transthyretin Cardiac Amyloidosis, University Hospital "St Ivan Rilski", 1431 Sofia, Bulgaria.
Anastasia OrmandjievaIndependent Medico-Diagnostic Laboratory Genome Center "Bulgaria", 1612 Sofia, Bulgaria.
Tihomir TodorovIndependent Medico-Diagnostic Laboratory Genome Center "Bulgaria", 1612 Sofia, Bulgaria.
Ognian AsenovDepartment of Neurology, Expert Centre for Hereditary Neurologic and Metabolic Disorders, University Hospital "Alexandrovska", Medical University of Sofia, 1431 Sofia, Bulgaria.
Teodora ChamovaDepartment of Neurology, Expert Centre for Hereditary Neurologic and Metabolic Disorders, University Hospital "Alexandrovska", Medical University of Sofia, 1431 Sofia, Bulgaria.ORCID 0000-0001-5142-5007
Plamen AntimovDepartment of Neurology, Expert Centre for Hereditary Neurologic and Metabolic Disorders, University Hospital "Alexandrovska", Medical University of Sofia, 1431 Sofia, Bulgaria.
Dilyana MikovaDepartment of Nuclear Medicine, University Hospital St Ivan Rilski, 1431 Sofia, Bulgaria.
Yordan PalashevClinical Center of Nuclear Medicine and Radiology, Medical University, 1784 Sofia, Bulgaria.
Ivailo TournevDepartment of Neurology, Expert Centre for Hereditary Neurologic and Metabolic Disorders, University Hospital "Alexandrovska", Medical University of Sofia, 1431 Sofia, Bulgaria.
Albena TodorovaIndependent Medico-Diagnostic Laboratory Genome Center "Bulgaria", 1612 Sofia, Bulgaria.

Funding

European Union NextGenerationEU through the National Recovery and Resilience Plan of the Republic of Bulgaria No. BG-RRP-2.004-0004-C01
6 · The paper itself

Abstract

Hereditary transthyretin amyloidosis (ATTRv) is an autosomal dominant disorder caused by pathogenic variants in the

Indexed as

Amyloid Neuropathies, FamilialPrealbuminAgedBulgariaFemaleGenetic TestingHumansMutationPrealbuminTTR protein, humanATTRvpathogenic variantTTR gene

Identifiers

PMID40725383
PMCPMC12294232

What Socratic holds

Textmetadata
LicenceCC BY
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 Socratic graph.