Evidence map›Paper›PMID 42569614›Full record

ArticleFrontiers in medicine2026

Compound heterozygous splicing and missense variants in

Juyi Li, Huihui Mao, Lu Li, Xiufang Wang, Guohua Yang, Jiguo Yu, Aiping Deng, Jifa Hu, Dan Wu, Peiyan Zhan and 1 more

Abstract read
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In one paragraph

Article in Frontiers in medicine, 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.

Juyi Li *Department of Pharmacy, Tongji Medical College, The Central Hospital of Wuhan, Huazhong University of Science and Technology, Wuhan, Hubei, China.
Huihui Mao *Department of Nephrology, Tongji Medical College, The Central Hospital of Wuhan, Huazhong University of Science and Technology, Wuhan, Hubei, China.
Lu Li *Department of Pharmacy, Tongji Medical College, The Central Hospital of Wuhan, Huazhong University of Science and Technology, Wuhan, Hubei, China.
Xiufang Wang *Department of Pain, Tongji Medical College, The Central Hospital of Wuhan, Huazhong University of Science and Technology, Wuhan, Hubei, China.
Guohua YangDepartment of Medical Genetics, School of Basic Medical Science, Wuhan University, Wuhan, Hubei, China.
Jiguo YuDepartment of Ophthalmology, Tongji Medical College, The Central Hospital of Wuhan, Huazhong University of Science and Technology, Wuhan, Hubei, China.
Aiping DengDepartment of Pharmacy, Tongji Medical College, The Central Hospital of Wuhan, Huazhong University of Science and Technology, Wuhan, Hubei, China.
Jifa HuDepartment of Ophthalmology, Tongji Medical College, The Central Hospital of Wuhan, Huazhong University of Science and Technology, Wuhan, Hubei, China.
Dan WuDepartment of Teaching Office, Tongji Medical College, The Central Hospital of Wuhan, Huazhong University of Science and Technology, Wuhan, Hubei, China.
Peiyan ZhanDepartment of Geriatrics, Tongji Medical College, The Central Hospital of Wuhan, Huazhong University of Science and Technology, Wuhan, Hubei, China.
Yingbo LiDepartment of Pain, Tongji Medical College, The Central Hospital of Wuhan, Huazhong University of Science and Technology, Wuhan, Hubei, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Objective: The objectives of the present study were to identify the genetic variations in a Chinese patient with Usher syndrome and to determine the pathogenicity of the identified variations. Methods: Whole-exome sequencing was performed for the proband. Alphafold3 and PyMOL software were used to determine the impact of a variation on three-dimensional protein structure. A Minigene Splicing Assay was performed to investigate the impact of a variant on Results: Two compound heterozygous missense and splicing variations of Conclusion: Compound heterozygous missense and splicing variants of

Indexed as

geneticsminigeneMYO7AUsher syndromewhole-exome sequencing

Identifiers

PMID42569614
PMCPMC13450680

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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.