Evidence map›Paper›PMID 36421772›Full record

ArticleGenes2022

A Missense Mutation (c.1037 G > C, p. R346P) in

Saima Mustafa, Malik Fiaz Hussain, Muhammad Latif, Maryam Ijaz, Muhammad Asif, Mubashir Hassan, Muhammad Faisal, Furhan Iqbal

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

Article in Genes, 2022. 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
0.3field-weighted citation impact, top 47% 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, 3 citations in OpenAlex.

  1. Reclassification ofMedicina (Kaunas, Lithuania) · 2026
    Article
  2. Review
  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

8 authors at 4 institutions in 3 countries.

Saima MustafaInstitute of Pure and Applied Biology, Zoology Division, Bahauddin Zakariya University, Multan 60800, Pakistan.
Malik Fiaz HussainInstitute of Pure and Applied Biology, Zoology Division, Bahauddin Zakariya University, Multan 60800, Pakistan.
Muhammad LatifDepartment of Zoology, Division of Science and Technology, University of Education, Lahore 54770, Pakistan.
Maryam IjazInstitute of Pure and Applied Biology, Zoology Division, Bahauddin Zakariya University, Multan 60800, Pakistan.
Muhammad AsifInstitute of Pure and Applied Biology, Zoology Division, Bahauddin Zakariya University, Multan 60800, Pakistan.
Mubashir HassanThe Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH 43205, USA.
Muhammad FaisalFaculty of Health Studies, University of Bradford, Bradford BD7 1DP, UK.ORCID 0000-0003-4885-4251
Furhan IqbalInstitute of Pure and Applied Biology, Zoology Division, Bahauddin Zakariya University, Multan 60800, Pakistan.ORCID 0000-0003-4996-0152
Bahauddin Zakariya University · PKNationwide Children's Hospital · USUniversity of Bradford · GBUniversity of Okara · PK

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundBrachyolmia is a skeletal disorder with an autosomal mode of inheritance (both dominant and recessive) in which the patients have a short height, scoliosis and a reduced trunk size.

methodsFrom the Muzaffargarh District in Pakistan, a consanguineous family with multiple Brachyolmia-affected subjects were enrolled in the present study. Basic epidemiological data and radiographs were collected for the subjects. Whole exome sequencing (WES) which was followed by Sanger sequencing was applied to report the geneticbasic of Brachyolmia.

resultsThe WES identified a missense mutation (c.1037 G > C, p. R346P) in exon 9 of the

conclusionWe report a missense mutation (c.1037 G > C, p. R346P) in the

Indexed as

Mutation, MissenseOsteochondrodysplasiasConsanguinityHEK293 CellsHumansMultienzyme ComplexesSulfate AdenylyltransferaseMultienzyme ComplexesPAPS synthetaseSulfate Adenylyltransferase3D protein structurebrachyolmiasanger sequencingWESWestern blot

Identifiers

PMID36421772
PMCPMC9690184
OpenAlexW4309007936

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.