Evidence map›Paper›PMID 29260090›Full record

ArticleAmerican journal of ophthalmology case reports2017

A recurrent, non-penetrant sequence variant, p.Arg266Cys in Growth/Differentiation Factor 3 (

Tanya Bardakjian, Max Krall, Di Wu, Richard Lao, Paul Ling-Fung Tang, Eunice Wan, Sarina Kopinsky, Adele Schneider, Pui-Yan Kwok, Anne Slavotinek

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

Article in American journal of ophthalmology case reports, 2017. 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
0.4field-weighted citation impact, top 28% 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

3 citing papers in PubMed, 5 citations in OpenAlex.

  1. Article
  2. Article
  3. Review
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 at 2 institutions in 1 country.

Tanya BardakjianDivision of Medical Genetics, Einstein Medical Center, Philadelphia, PA, USA.
Max KrallDept. of Pediatrics, Division of Genetics, University of California San Francisco, San Francisco, CA, USA.
Di WuDept. of Pediatrics, Division of Genetics, University of California San Francisco, San Francisco, CA, USA.
Richard LaoCardiovascular Research Institute, University of California San Francisco, San Francisco, CA, USA.
Paul Ling-Fung TangCardiovascular Research Institute, University of California San Francisco, San Francisco, CA, USA.
Eunice WanCardiovascular Research Institute, University of California San Francisco, San Francisco, CA, USA.
Sarina KopinskyDivision of Medical Genetics, Einstein Medical Center, Philadelphia, PA, USA.
Adele SchneiderDivision of Medical Genetics, Einstein Medical Center, Philadelphia, PA, USA.
Pui-Yan KwokCardiovascular Research Institute, University of California San Francisco, San Francisco, CA, USA.
Anne SlavotinekDept. of Pediatrics, Division of Genetics, University of California San Francisco, San Francisco, CA, USA.
University of California, San Francisco · USEinstein Medical Center Philadelphia · US

Funding

Gene Discovery in Human Anopthalmia/MicropthalmiaR21EY022779 · NEI · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI SLAVOTINEK, ANNE M. · 2012 to 2013
$421k
NEI NIH HHS R21 EY022779
6 · The paper itself

Abstract

purposeThe genetic causes of anophthalmia, microphthalmia and coloboma remain poorly understood. Missense mutations in Growth/Differentiation Factor 3 ( OBSERVATIONS: Exome sequencing revealed that the proposita was heterozygous for c.796C > T, predicting p.Arg266Cys, in CONCLUSIONS AND IMPORTANCE: Although transfection studies with the p.Arg266Cys mutation have shown that this amino acid substitution is likely to impair function, non-penetrance for the ocular defects was apparent in this family and has been observed in other families with sequence variants in

Indexed as

AnophthalmiaGDF3Growth/Differentiation Factor 3Microphthalmiap.Arg266Cys in GDF3

Identifiers

PMID29260090
PMCPMC5722175
OpenAlexW2684847144

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.