Evidence map›Paper›PMID 27081518›Full record

ArticleHuman genome variation2015

A FRMD7 variant in a Japanese family causes congenital nystagmus.

Tomohiro Kohmoto, Nana Okamoto, Shigeko Satomura, Takuya Naruto, Takahide Komori, Toshiaki Hashimoto, Issei Imoto

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Human genome variation, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
0.2field-weighted citation impact, top 34% of its field
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

4 citing papers in PubMed, 5 citations in OpenAlex.

  1. Review
  2. Review
  3. Article
  4. 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

7 authors at 3 institutions in 1 country.

Tomohiro KohmotoDepartment of Human Genetics, Institute of Health Biosciences, The University of Tokushima Graduate School, Tokushima, Japan; Student Lab, Faculty of Medicine, The University of Tokushima, Tokushima, Japan.
Nana OkamotoDepartment of Oral and Maxillofacial Surgery, Kobe University Graduate School of Medicine , Kobe, Japan.
Shigeko SatomuraJapanese Red Cross Tokushima Hinomine Rehabilitation Center for People with Disabilities , Tokushima, Japan.
Takuya NarutoDepartment of Stress Science, Institute of Health Biosciences, The University of Tokushima Graduate School , Tokushima, Japan.
Takahide KomoriDepartment of Oral and Maxillofacial Surgery, Kobe University Graduate School of Medicine , Kobe, Japan.
Toshiaki HashimotoJapanese Red Cross Tokushima Hinomine Rehabilitation Center for People with Disabilities , Tokushima, Japan.
Issei ImotoDepartment of Human Genetics, Institute of Health Biosciences, The University of Tokushima Graduate School , Tokushima, Japan.
Tokushima University · JPKobe University · JPTokushima Red Cross Hospital · JP

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Idiopathic congenital nystagmus (ICN) is a genetically heterogeneous eye movement disorder that causes a large proportion of childhood visual impairment. Here we describe a missense variant (p.L292P) within a mutation-rich region of FRMD7 detected in three affected male siblings in a Japanese family with X-linked ICN. Combining sequence analysis and results from structural and functional predictions, we report p.L292P as a variant potentially disrupting FRMD7 function associated with X-linked ICN.

Identifiers

PMID27081518
PMCPMC4785577
OpenAlexW2333405853

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-SA
Read underepoch 390

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.