Evidence map›Paper›PMID 40463445›Full record

ArticleCase reports in genetics2025

Pathogenic Deep Intronic Variant in

Matthew R Gregory, Khurram Liaqat, Kayla Treat, Kathryn M Haider, Francesco Vetrini, Erin Conboy

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Case reports in genetics, 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.

Matthew R GregoryIndiana University School of Medicine, Riley Hospital for Children, Indianapolis, Indiana, USA.
Khurram LiaqatDepartment of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana, USA.ORCID https://orcid.org/0000-0002-0792-5773
Kayla TreatIndiana University School of Medicine, Riley Hospital for Children, Indianapolis, Indiana, USA.
Kathryn M HaiderDepartment of Ophthalmology, Indiana University School of Medicine, Indianapolis, Indiana, USA.
Francesco VetriniDepartment of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana, USA.
Erin ConboyIndiana University School of Medicine, Riley Hospital for Children, Indianapolis, Indiana, USA.ORCID https://orcid.org/0000-0002-4831-6683

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Achromatopsia (ACHM) (MIM: 262300) is an autosomal recessive disorder characterized by reduced visual acuity and color blindness. In this report, we review the case of a 14-year-old male patient diagnosed with achromatopsia with a history of retinal dystrophy, cone dysfunction with normal dark-adapted response on ERG, congenital nystagmus, farsightedness, and astigmatism. The diagnostic exome sequencing previously revealed a single maternally inherited pathogenic

Identifiers

PMID40463445
PMCPMC12133362

What OpenQuestion holds

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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 OpenQuestion graph.