Evidence map›Paper›PMID 34638995›Full record

ArticleInternational journal of molecular sciences2021

Biallelic Variants in

Priya Jarwar, Shakeel Ahmed Sheikh, Yar Muhammad Waryah, Ikram Uddin Ujjan, Saima Riazuddin, Ali Muhammad Waryah, Zubair M Ahmed

Open access · goldAbstract read
In one paragraph

Article in International journal of molecular sciences, 2021. 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
0.3field-weighted citation impact, top 43% 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, 7 citations in OpenAlex.

  1. Article
  2. Abnormal function ofInternational journal of ophthalmology · 2024
    Article
  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 2 countries.

Priya JarwarInstitute of Biotechnology and Genetic Engineering, The University of Sindh, Jamshoro 76090, Pakistan.
Shakeel Ahmed SheikhDepartment of Molecular Biology & Genetics, Liaquat University of Medical and Health Sciences, Jamshoro 76090, Pakistan.
Yar Muhammad WaryahScientific Ophthalmic and Research Laboratory, Sindh Institute of Ophthalmology and Visual Sciences, Hyderabad 71500, Pakistan.
Ikram Uddin UjjanDepartment of Pathology, Liaquat University of Medical and Health Sciences, Jamshoro 76090, Pakistan.
Saima RiazuddinDepartment of Molecular Biology & Genetics, Liaquat University of Medical and Health Sciences, Jamshoro 76090, Pakistan.
Ali Muhammad WaryahDepartment of Molecular Biology & Genetics, Liaquat University of Medical and Health Sciences, Jamshoro 76090, Pakistan.ORCID 0000-0002-2596-9032
Zubair M AhmedDepartment of Otorhinolaryngology Head and Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD 21201, USA.ORCID 0000-0003-2914-4502
University of Maryland, Baltimore · USLiaquat University of Medical & Health Sciences · PKUniversity of Sindh · PK

Funding

Molecular Determinants of Usher Syndrome Disorder in HumansR01DC016295 · NIDCD · UNIVERSITY OF MARYLAND BALTIMORE · PI AHMED, ZUBAIR M. · 2018 to 2022
$2.7M
NIDCD NIH HHS R01 DC016295NIDCD NIH HHS R01DC016295
6 · The paper itself

Abstract

Hereditary congenital cataract (HCC) is clinically and genetically heterogeneous. We investigated HCC that segregates in three inbred families (LUCC03, LUCC16, and LUCC24). Ophthalmological examinations revealed cataracts with variability related to the age of onset segregating in a recessive manner in these families. Exome sequencing of probands identified a novel homozygous c.2710delG;p.(Val904Cysfs*36)

Indexed as

AllelesConsanguinityMutation, MissenseCataractExome SequencingFamilyFemaleHomozygoteHumansMalePakistanPedigreePhenotypeReceptor, EphA2EPHA2 protein, humanReceptor, EphA2cataractEPHA2Eph receptorexome sequencinghereditary congenital cataractinbred populationtyrosine kinase receptor

Identifiers

PMID34638995
PMCPMC8508826
OpenAlexW3202878273

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.