Evidence map›Paper›PMID 37727480›Full record

ArticleWorld journal of clinical cases2023

Autosomal dominant non-syndromic hearing loss caused by a novel mutation in

Cai-Feng Xia, Rong Yan, Wen-Wen Su, Yu-He Liu

Abstract readCase Reports
In one paragraph

Article in World journal of clinical cases, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing 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

3 citing papers in PubMed.

  1. Article
  2. Article
  3. Identification of a novel compound heterozygous pathogenic variant inThe Journal of international medical research · 2023
    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

4 authors.

Cai-Feng XiaDepartment of Otolaryngology Head and Neck Surgery, Peking University First Hospital, Beijing 100034, China.
Rong YanDepartment of Otolaryngology Head and Neck Surgery, Peking University First Hospital, Beijing 100034, China.
Wen-Wen SuDepartment of Otolaryngology Head and Neck Surgery, Peking University First Hospital, Beijing 100034, China.
Yu-He LiuDepartment of Otolaryngology Head and Neck Surgery, Peking University First Hospital, Beijing 100034, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundVariants in the CASE SUMMARY: The proband was a 53-year-old Han male who presented with post-lingual bilateral symmetrical moderate sensorineural hearing loss. We learned from the patient's medical history collection that multiple family members also had similar hearing loss, generally occurring around the age of 40. Subsequent investigation by high-throughput sequencing identified a novel

conclusionWe report a novel variant leading to DFNA11 which further enriches the collection of

Indexed as

Autosomal dominant hearing lossCase reportHereditary hearing lossMYO7A geneNon-syndromic hearing lossVariant

Identifiers

PMID37727480
PMCPMC10506018

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.