Evidence mapPaperPMID 37680813Full record

ArticlePakistan journal of medical sciences

A Novel CRYBB2 Silent Variant in Autosomal Dominant Congenital Cataracts (ADCC) in Pakistani families.

Maryam Hussain, Khushi Muhammad, Muhammad Khan, Aziz Ud Din

Open access · goldAbstract read
In one paragraph

Article in Pakistan journal of medical sciences. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.2field-weighted citation impact, top 42% 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

1 citing paper in PubMed, 1 citations in OpenAlex.

  1. APakistan journal of medical 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

4 authors at 2 institutions in 2 countries.

Maryam HussainMaryam Hussain, M.Phil. Department of Biotechnology and Genetic Engineering, Hazara University Mansehra, 21120, Khyber Pakhtunkhwa, Pakistan.
Khushi MuhammadKhushi Muhammad, PhD. Associate Professor, Department of Life Science, Imperial College London, Sir Alex Fleming Building South, Kensington Campus London, SW7 2AZ, United Kingdom.
Muhammad KhanMuhammad Khan, PhD. Assistant Professor, Department of Biotechnology and Genetic Engineering, Hazara University Mansehra, 21120, Khyber Pakhtunkhwa, Pakistan.
Aziz Ud DinAziz Ud Din, PhD. Assistant Professor, Department of Biotechnology and Genetic Engineering, Hazara University Mansehra, 21120, Khyber Pakhtunkhwa, Pakistan.
Hazara University · PKImperial College London · GB

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Objective: Congenital Cataract is a type of ophthalmic genetic disorder that appears at birth or in early childhood. Among 30 genes, Methods: It is a family-based study that presents three to five-generations of two Pakistani families. Data and blood samples from the families were collected from January to August 2019 from LRBT (Layton Rahmatullah Benevolent Trust) Hospital, Mansehra, Pakistan. We only included patients >15 years old. Before enrollment in the current study, each patient obtained a thorough optical examination. Samples were moved to the molecular lab using the collection and storage method. The phenol-chloroform technique was used to extract the DNA. The technique of Sanger sequencing was used to find any potential mutation in some of the selected families. Statistical and bioinformatics analysis were carried out. Results: By using bioinformatics tools, the novel silent mutation was identified. Heterozygous silent mutation of Conclusion: This study investigated a novel important sequence variant in the beta-crystalline protein that causes autosomal dominant congenital cataract (ADCC) in Pakistani families. Thus, our study enlarges the

Indexed as

Congenital cataractlamellar cataracts Nuclear cataractRed reflex examination and Swiss-modelβ-crystalline

Identifiers

PMID37680813
PMCPMC10480720
OpenAlexW4384470707

What Socratic 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 Socratic graph.