Evidence map›Paper›PMID 42376640›Full record

ArticleMolecular genetics and metabolism reports2026

Modibo Diallo, Alicia Defay-Stinat, Claudio Plaisant, Sabine Derrien, Elina Mercier, Sophie Javerzat, Shahram Mesdaghi, Daniel J Rigden, Eulalie Lasseaux, Vincent Michaud and 1 more

Abstract readCase Reports
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

11 authors.

Modibo DialloLaboratoire Maladies Rares, Génétique et Métabolisme, Bordeaux University INSERM U1211, Bordeaux, France.
Alicia Defay-StinatLaboratoire Maladies Rares, Génétique et Métabolisme, Bordeaux University INSERM U1211, Bordeaux, France.
Claudio PlaisantService de Génétique Médicale, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, France.
Sabine DerrienElectrophysiology Department, Rothschild Foundation Hospital, Paris, France.
Elina MercierLaboratoire Maladies Rares, Génétique et Métabolisme, Bordeaux University INSERM U1211, Bordeaux, France.
Sophie JaverzatLaboratoire Maladies Rares, Génétique et Métabolisme, Bordeaux University INSERM U1211, Bordeaux, France.
Shahram MesdaghiInstitute of Systems, Molecular and Integrative Biology, University of Liverpool, Liverpool, United Kingdom.
Daniel J RigdenInstitute of Systems, Molecular and Integrative Biology, University of Liverpool, Liverpool, United Kingdom.
Eulalie LasseauxService de Génétique Médicale, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, France.
Vincent MichaudLaboratoire Maladies Rares, Génétique et Métabolisme, Bordeaux University INSERM U1211, Bordeaux, France.
Benoit ArveilerLaboratoire Maladies Rares, Génétique et Métabolisme, Bordeaux University INSERM U1211, Bordeaux, France.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Albinism is characterized by generalized hypopigmentation and ocular features resulting from impaired melanin biosynthesis. Most known pathogenic variants are rare (MAF < 0.001) and found in coding regions. The role of non-coding variants, especially those with higher allele frequencies, is generally not investigated. Our next generation sequencing panel that includes the entire sequence of five major albinism genes (

Indexed as

Common variantIntronic variantNGSOCASplicing

Identifiers

PMID42376640
PMCPMC13311137

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.