Evidence map›Paper›PMID 39933924›Full record

ArticleLife science alliance2025

A biallelic variant in

Sophie Lebon, Arnaud Bruneel, Séverine Drunat, Alexandra Albert, Zsolt Csaba, Monique Elmaleh, Alexandra Ntorkou, Yann Ténier, François Fenaille, Pierre Gressens and 4 more

Abstract read
In one paragraph

Article in Life science alliance, 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. Review
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

14 authors.

Sophie LebonUniversité Paris Cité, NeuroDiderot, Inserm UMR1141, Paris, France.ORCID 0000-0003-0039-5519
Arnaud BruneelUniversité Paris-Saclay, Inserm UMR1193, Faculté de Pharmacie, Orsay, France.ORCID 0000-0001-8411-3309
Séverine DrunatUniversité Paris Cité, NeuroDiderot, Inserm UMR1141, Paris, France.ORCID 0000-0002-6777-4639
Alexandra AlbertUniversité Paris Cité, NeuroDiderot, Inserm UMR1141, Paris, France.ORCID 0009-0009-8851-9141
Zsolt CsabaUniversité Paris Cité, NeuroDiderot, Inserm UMR1141, Paris, France.ORCID 0000-0002-3392-2605
Monique ElmalehAP-HP Département de Radiologie Pédiatrique, Hôpital Robert Debré, Paris, France.ORCID 0000-0001-8190-8202
Alexandra NtorkouAP-HP Département de Radiologie Pédiatrique, Hôpital Robert Debré, Paris, France.ORCID 0000-0001-7454-4316
Yann TénierUniversité Paris Saclay, CEA, INRAE, Département Médicaments et Technologies pour la Santé, MetaboHUB, Gif sur Yvette, France.ORCID 0009-0005-5714-9302
François FenailleUniversité Paris Saclay, CEA, INRAE, Département Médicaments et Technologies pour la Santé, MetaboHUB, Gif sur Yvette, France.ORCID 0000-0001-6787-4149
Pierre GressensUniversité Paris Cité, NeuroDiderot, Inserm UMR1141, Paris, France.ORCID 0000-0002-0909-4221
Sandrine PassemardUniversité Paris Cité, NeuroDiderot, Inserm UMR1141, Paris, France.ORCID 0000-0002-0242-4566
Odile Boespflug-TanguyUniversité Paris Cité, NeuroDiderot, Inserm UMR1141, Paris, France.ORCID 0000-0003-2389-1232
Imen DorbozUniversité Paris Cité, NeuroDiderot, Inserm UMR1141, Paris, France imen.dorboz@aphp.fr.ORCID 0000-0003-3299-1497
Vincent El GhouzziUniversité Paris Cité, NeuroDiderot, Inserm UMR1141, Paris, France vincent.elghouzzi@inserm.fr.ORCID 0000-0001-5894-8978

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

GRASP65 is a Golgi-associated peripheral protein encoded by the

Indexed as

Golgi ApparatusGolgi Matrix ProteinsMembrane ProteinsMitosisAllelesCRISPR-Cas SystemsFemaleGlycosylationHumansMaleMutationPhenotypeGolgi Matrix ProteinsGORASP1 protein, humanMembrane Proteins

Identifiers

PMID39933924
PMCPMC11814487

What OpenQuestion 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 OpenQuestion graph.