Evidence map›Paper›PMID 42657335›Full record

ArticleInternational journal of general medicine2026

Two Novel Compound Heterozygous

Pengcheng Xu, Qi Liao, Yun Lin, Ning Zhao, Lin Li

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in International journal of general 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

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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.

Pengcheng Xu *Department of Otorhinolaryngology, The Affiliated Wuxi People's Hospital of Nanjing Medical, Wuxi, People's Republic of China.ORCID 0000-0002-9590-6600
Qi Liao *Department of Otorhinolaryngology, The Affiliated Wuxi People's Hospital of Nanjing Medical, Wuxi, People's Republic of China.
Yun LinEar Institute, Shanghai Jiao Tong University School of Medicine, Shanghai, People's Republic of China.
Ning ZhaoDepartment of Otorhinolaryngology, The Affiliated Wuxi People's Hospital of Nanjing Medical, Wuxi, People's Republic of China.
Lin LiDepartment of Otorhinolaryngology, The Affiliated Wuxi People's Hospital of Nanjing Medical, Wuxi, People's Republic of China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Purpose: Hereditary hearing loss is a genetically heterogeneous disorder, with more than 120 genes implicated in the non-syndromic forms. The genetic cause of non-syndromic hearing loss (NSHL) in a Chinese Han family was investigated, and the function of the identified mutation was characterized. Methods: The family members were clinically evaluated. Targeted next-generation sequencing of 414 deafness-related genes was performed on the proband. The identified variants were validated in the family members of the proband using Sanger sequencing and PCR. The functional impacts of the variants on splicing were predicted using SpliceAI and MaxEntScan. Results: Two compound heterozygous Conclusion: We identified two novel compound heterozygous

Indexed as

autosomal recessiveCDH23Chinese Hancompound heterozygous mutationnon-syndromic hearing loss

Identifiers

PMID42657335
PMCPMC13510221

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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.