Evidence map›Paper›PMID 42461232›Full record

ArticleBritish journal of haematology2026

Deep intronic ANK1 variants causing pseudo-exon inclusion in hereditary spherocytosis: Whole-genome sequencing and functional assessment.

Victor Marin, Alexandre Janin, Céline Renoux, Yoann Huguenin, AURAGEN consortium, Stéphanie Dulucq, Louis Lebreton, Philippe Joly, Julian Boutin

Abstract read
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In one paragraph

Article in British journal of haematology, 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.

Victor MarinLaboratory of Biochemistry, University Hospital Centre Bordeaux, Bordeaux, France.ORCID https://orcid.org/0009-0000-7439-192X
Alexandre JaninService de Biochimie et de Biologie Moléculaire, Centre de Biologie et de Pathologie Est, Hospices Civils de Lyon, Bron, France.ORCID https://orcid.org/0000-0003-3571-003X
Céline RenouxGCS AURAGEN, Lyon, France.
Yoann HugueninPellegrin Hospital Group Children's Hospital, Pediatry Bordeaux, University Hospital Centre Bordeaux, Bordeaux, France.
AURAGEN consortiumGCS AURAGEN, Lyon, France.
Stéphanie DulucqLaboratory of Hematology, University Hospital Centre Bordeaux, Bordeaux, France.
Louis LebretonLaboratory of Biochemistry, University Hospital Centre Bordeaux, Bordeaux, France.ORCID https://orcid.org/0000-0002-8583-1326
Philippe JolyGCS AURAGEN, Lyon, France.ORCID https://orcid.org/0000-0002-2351-9441
Julian BoutinLaboratory of Biochemistry, University Hospital Centre Bordeaux, Bordeaux, France.ORCID https://orcid.org/0000-0001-9948-4129

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

ANK1deep intronic variantshereditary spherocytosispseudo‐exonwhole‐genome sequencing

Identifiers

PMID42461232

What OpenQuestion holds

Textmetadata
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 OpenQuestion graph.