Evidence map›Paper›PMID 41732190›Full record

ArticleMolecular genetics and metabolism reports2026

Clinical implications of a novel SERPINA1 variant c.236 T > A: Challenges in characterizing new rare alpha-1 antitrypsin mutations.

Arturo Olivares-Rivera, Hilal Ersöz, Philipp Höger, Martina Veith, Timm Greulich, Kai Schlamp, Sabina Janciauskiene, Felix Herth, Franziska C Trudzinski

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PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular genetics and metabolism reports, 2026. 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.

Arturo Olivares-RiveraDepartment of Pneumology and Critical Care Medicine, Thoraxklinik, University of Heidelberg, Heidelberg, Germany.
Hilal ErsözDepartment of Pneumology and Critical Care Medicine, Thoraxklinik, University of Heidelberg, Heidelberg, Germany.
Philipp HögerDepartment of Pneumology and Critical Care Medicine, Thoraxklinik, University of Heidelberg, Heidelberg, Germany.
Martina VeithUniversity Medical Center Giessen and Marburg, Philipps-University, Department of Medicine, Pulmonary and Critical Care Medicine, Member of the German Center for Lung Research (DZL), Marburg, Germany.
Timm GreulichUniversity Medical Center Giessen and Marburg, Philipps-University, Department of Medicine, Pulmonary and Critical Care Medicine, Member of the German Center for Lung Research (DZL), Marburg, Germany.
Kai SchlampDepartment of Diagnostic and Interventional Radiology with Nuclear Medicine, Thoraxklinik at University Hospital Heidelberg, Heidelberg, Germany.
Sabina JanciauskieneGerman Center for Lung Research (DZL), Biomedical Research in End-Stage and Obstructive Lung Disease Hannover (BREATH), Hannover, Germany.
Felix HerthDepartment of Pneumology and Critical Care Medicine, Thoraxklinik, University of Heidelberg, Heidelberg, Germany.
Franziska C TrudzinskiDepartment of Pneumology and Critical Care Medicine, Thoraxklinik, University of Heidelberg, Heidelberg, Germany.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Severe alpha-1 antitrypsin deficiency (AATD) is a rare genetic condition characterized by low levels of alpha-1 antitrypsin (AAT), leading to progressive lung and/or liver disease. Most severe cases are linked to the Z allele (c.1096G > A (p.Glu366Lys)) of the

Indexed as

Alpha-1 antitrypsin deficiencyCase reportEmphysemaRare mutationSERPINA1

Identifiers

PMID41732190
PMCPMC12925186

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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.