Evidence map›Paper›PMID 40225947›Full record

ArticleHuman mutation2024

Exonic Deletions and Deep Intronic Variants of the

Yongan Tian, Mengli Liu, Yu Lu, Xiaoyan Zhao, Zhiqiang Yan, Yi Sun, Jingyuan Ma, Wenxue Tang, Haili Wang, Hongen Xu

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Human mutation, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Novel SLC26A4 variant in Pendred syndrome with non-classical inheritance: a case report.European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery · 2025
    Article
  2. Assessing the Functional Significance of Novel and Rare Variants of theInternational journal of molecular sciences · 2025
    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

10 authors.

Yongan TianPrecision Medicine Center, Academy of Medical Science, Tianjian Laboratory of Advanced Biomedical Sciences, Zhengzhou University, Daxuebei Road No. 40, Zhengzhou 450052, China.ORCID 0000-0002-9545-3103
Mengli LiuPrecision Medicine Center, Academy of Medical Science, Tianjian Laboratory of Advanced Biomedical Sciences, Zhengzhou University, Daxuebei Road No. 40, Zhengzhou 450052, China.
Yu LuDepartment of Otolaryngology-Head and Neck Surgery, West China Hospital of Sichuan University, Chengdu 610041, China.ORCID 0009-0002-2515-9686
Xiaoyan ZhaoPrecision Medicine Center, Academy of Medical Science, Tianjian Laboratory of Advanced Biomedical Sciences, Zhengzhou University, Daxuebei Road No. 40, Zhengzhou 450052, China.
Zhiqiang YanDepartment of Otolaryngology Head and Neck Surgery, Hospital of the 71st Group Army/Affiliated Huaihai Hospital of Xuzhou Medical University, Xuzhou 221004, China.
Yi SunDepartment of Otolaryngology Head and Neck Surgery, General Hospital of Central Theater Command, Wuhan 430070, China.
Jingyuan MaDepartment of Otolaryngology, Henan Provincial People's Hospital of Zhengzhou University, Zhengzhou 450003, China.
Wenxue TangThe Research and Application Center of Precision Medicine, The Second Affiliated Hospital of Zhengzhou University, Jingba Road No. 2, Zhengzhou 450014, China.
Haili WangLonghu Laboratory, Zhengzhou University, No. 100, Science Avenue, Zhengzhou 450001, China.ORCID 0000-0001-5963-7696
Hongen XuPrecision Medicine Center, Academy of Medical Science, Tianjian Laboratory of Advanced Biomedical Sciences, Zhengzhou University, Daxuebei Road No. 40, Zhengzhou 450052, China.ORCID 0000-0001-7895-0899

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Enlarged vestibular aqueduct (EVA) is a frequently occurring inner ear malformation that associates with sensorineural hearing loss (SNHL), with

Indexed as

ExonsHearing Loss, SensorineuralIntronsSequence DeletionSulfate TransportersVestibular AqueductAdolescentAdultChildChild, PreschoolDNA Copy Number VariationsExome SequencingFemaleHumansMaleSLC26A4 protein, humanSulfate Transporterscopy number variationsenlarged vestibular aqueductintronic variantsmultiplex PCRSLC26A4

Identifiers

PMID40225947
PMCPMC11919234

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.