Evidence map›Paper›PMID 41480157›Full record

ArticleFrontiers in genetics2025

Case Report: Minigene assays reveal a novel

Yupeng Long, Huixian Li, Haoyue Yu, Qian Yi, Xiong Meng, Xi Wang, Qinqin Ren, Dongyan Ding, Haidong Li, Fenglan Zhang and 2 more

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

Article in Frontiers in genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. Article
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

12 authors.

Yupeng LongLaboratory and Blood Transfusion Department of Jiangbei Campus, The First Affiliated Hospital of Army Medical University (The 958th hospital of Chinese People's Liberation Army), Chongqing, China.
Huixian LiCenter for Clinical Genetics and Genomics, Dian Diagnostics Group Co., Ltd., Hangzhou, Zhejiang, China.
Haoyue YuRespiratory and Critical Care Medicine Department of Jiangbei Campus, The First Affiliated Hospital of Army Medical University (The 958th hospital of Chinese People's Liberation Army), Chongqing, China.
Qian YiRespiratory and Critical Care Medicine Department of Jiangbei Campus, The First Affiliated Hospital of Army Medical University (The 958th hospital of Chinese People's Liberation Army), Chongqing, China.
Xiong MengRespiratory and Critical Care Medicine Department of Jiangbei Campus, The First Affiliated Hospital of Army Medical University (The 958th hospital of Chinese People's Liberation Army), Chongqing, China.
Xi WangRespiratory and Critical Care Medicine Department of Jiangbei Campus, The First Affiliated Hospital of Army Medical University (The 958th hospital of Chinese People's Liberation Army), Chongqing, China.
Qinqin RenRespiratory and Critical Care Medicine Department of Jiangbei Campus, The First Affiliated Hospital of Army Medical University (The 958th hospital of Chinese People's Liberation Army), Chongqing, China.
Dongyan DingRespiratory and Critical Care Medicine Department of Jiangbei Campus, The First Affiliated Hospital of Army Medical University (The 958th hospital of Chinese People's Liberation Army), Chongqing, China.
Haidong LiRespiratory and Critical Care Medicine Department of Jiangbei Campus, The First Affiliated Hospital of Army Medical University (The 958th hospital of Chinese People's Liberation Army), Chongqing, China.
Fenglan ZhangCenter for Clinical Genetics and Genomics, Dian Diagnostics Group Co., Ltd., Hangzhou, Zhejiang, China.
Hao QiuCenter for Clinical Genetics and Genomics, Dian Diagnostics Group Co., Ltd., Hangzhou, Zhejiang, China.
Xuemei YangRespiratory and Critical Care Medicine Department of Jiangbei Campus, The First Affiliated Hospital of Army Medical University (The 958th hospital of Chinese People's Liberation Army), Chongqing, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Primary ciliary dyskinesia (PCD), a rare hereditary disorder characterized by impaired ciliary motility, is frequently linked to infertility. Elucidating PCD's genetic basis is critical for accurate diagnosis and clinical management. However, research on the pathogenicity of intronic variants in non-classical splice regions of Case presentation: A proband with primary ciliary dyskinesia (PCD) and male infertility underwent whole exome sequencing (WES), revealing a novel hemizygous intronic variant in the Conclusion: This study identifies and confirms a novel pathogenic intronic variant of

Indexed as

case reportDNAAF6 genemale infertilityminigeneprimary ciliary dyskinesia

Identifiers

PMID41480157
PMCPMC12755853

What OpenQuestion holds

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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.