Evidence map›Paper›PMID 41009946›Full record

ArticleGenes2025

Compound Heterozygous Complete Loss-of-Function

Emmanuelle Masson, Marc Wangermez, David Tougeron, Vinciane Rebours, Claude Férec, Jian-Min Chen

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. 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

6 authors.

Emmanuelle MassonInserm, Univ Brest, EFS, UMR 1078, GGB, 29200 Brest, France.
Marc WangermezGastroenterology Department, Poitiers University Hospital, 86000 Poitiers, France.
David TougeronGastroenterology Department, Poitiers University Hospital, 86000 Poitiers, France.ORCID 0000-0002-8065-9635
Vinciane ReboursPancreatology and Digestive Oncology Department, Beaujon Hospital, APHP-Clichy, Université Paris Cité, 75006 Paris, France.
Claude FérecInserm, Univ Brest, EFS, UMR 1078, GGB, 29200 Brest, France.
Jian-Min ChenInserm, Univ Brest, EFS, UMR 1078, GGB, 29200 Brest, France.ORCID 0000-0002-2424-3969

Funding

The Institut National de la Santé et de la Recherche Médicale (INSERM), the Association des Pancré-atites Chroniques Héréditaires, and the Association Gaétan Saleün, France. Not applicable
6 · The paper itself

Abstract

BACKGROUND/

objectivesWhile complete loss-of-function (LoF)

methodsTargeted next-generation sequencing (NGS) was used to analyze the entire coding region and exon-intron boundaries of the

resultsThe proband harbored compound heterozygous complete LoF

conclusionsThis study expands the mutational spectrum of

Indexed as

Exocrine Pancreatic InsufficiencyLoss of Function MutationTrypsin Inhibitor, Kazal PancreaticDNA Copy Number VariationsHeterozygoteHigh-Throughput Nucleotide SequencingHumansPedigreeSPINK1 protein, humanTrypsin Inhibitor, Kazal Pancreaticcomplex genomic rearrangementcompound heterozygositydeletion variantloss-of-function allelemissing heritabilityrare pediatric diseaseserial replication slippagesevere infantile isolated exocrine pancreatic insufficiencySPINK1 proteintranslesion synthesis

Identifiers

PMID41009946
PMCPMC12469571

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.