Evidence map›Paper›PMID 42394945›Full record

ArticleFrontiers in genetics2026

A rescue assay for genetic diagnosis of oculocutaneous albinism using melanocytic MNT1 knock-out cells.

Elina Mercier, Vincent Michaud, Angèle Sequeira, Benoit Arveiler, Sophie Javerzat

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Article in Frontiers in genetics, 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

5 authors.

Elina Mercier *Rare Diseases Genetics and Metabolism, INSERM U1211, University of Bordeaux, Bordeaux, France.
Vincent Michaud *Rare Diseases Genetics and Metabolism, INSERM U1211, University of Bordeaux, Bordeaux, France.
Angèle Sequeira *Rare Diseases Genetics and Metabolism, INSERM U1211, University of Bordeaux, Bordeaux, France.
Benoit ArveilerRare Diseases Genetics and Metabolism, INSERM U1211, University of Bordeaux, Bordeaux, France.
Sophie JaverzatRare Diseases Genetics and Metabolism, INSERM U1211, University of Bordeaux, Bordeaux, France.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The molecular diagnosis of albinism is hampered by a significant number of genetic variants of unknown significance (VUS) including a majority of missense and in-frame insertion deletion variants. This contributes to the high rate of unresolved genetic diagnosis for this disease. We designed a straightforward test of missense VUS in albinism genes based on functional rescue. As a proof of concept, the assay was set up for testing variants in the

Indexed as

albinismgenetic diseasemolecular diagnosisrescue assayvariant of unknown significance

Identifiers

PMID42394945
PMCPMC13327656

What Socratic holds

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LicenceCC BY
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Registered trials

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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 Socratic graph.