Evidence map›Paper›PMID 34899144›Full record

ArticleMolecular syndromology2021

Variants in the

Farooq Ahmad, Ishtiaq Ahmed, Qamre Alam, Tanveer Ahmad, Ammara Khan, Ijaz Ahmad, Muhammad Bilal, Amir Hayat, Amjad Khan, Ahmed Waqas and 3 more

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

Article in Molecular syndromology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.9field-weighted citation impact, top 31% 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

2 citing papers in PubMed, 8 citations in OpenAlex.

  1. A Novel Loss of Function Variant inMolecular syndromology · 2025
    Article
  2. 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

13 authors at 6 institutions in 3 countries.

Farooq AhmadDepartment of Chemistry, Women University Swabi, Swabi, Pakistan.
Ishtiaq AhmedMardan Medical Complex (MMC), Mardan, Pakistan.
Qamre AlamMedical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud bin Abdulaziz University for Health Science, Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia.
Tanveer AhmadDepartment of Biotechnology, Faculty of Chemical and Life Sciences, Abdul Wali Khan University (AWKUM), Mardan, Pakistan.
Ammara KhanDepartment of Chemistry, Women University Swabi, Swabi, Pakistan.
Ijaz AhmadDepartment of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University (QAU), Islamabad, Pakistan.
Muhammad BilalDepartment of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University (QAU), Islamabad, Pakistan.
Amir HayatDepartment Biochemistry, Abdul Wali Khan University, Mardan, Pakistan.
Amjad KhanLaboratoire d'ImmunoRhumatologie Moléculaire, Plateforme GENOMAX, INSERM UMR_S 1109, Faculté de Médecine, Fédération Hospitalo-Universitaire OMICARE, Fédération de Médecine Translationnelle de Strasbourg (FMTS), LabEx TRANSPLANTEX, Université de Strasbourg, Strasbourg, France.
Ahmed WaqasDivision of Science and Technology, Department of Zoology, University of Education Lahore, Multan Campus, Multan, Pakistan.
Misbahuddin M RafeeqDepartment of Pharmacology, Faculty of Medicine, Rabigh, King Abduaziz University, Jeddah, Saudi Arabia.
Ziaullah M SainDepartment of Microbiology, Faculty of Medicine, Rabigh, King Abduaziz University, Jeddah, Saudi Arabia.
Muhammad UmairMedical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud bin Abdulaziz University for Health Science, Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia.
Quaid-i-Azam University · PKAbdul Wali Khan University Mardan · PKInserm · FRKing Abdulaziz University · SAKing Saud bin Abdulaziz University for Health Sciences · SAUniversity of Okara · PK

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The term autosomal recessive congenital ichthyosis (ARCI) is the subgroup of ichthyosis, which describes a highly heterogeneous group of genetic disorders of the skin characterized by cornification and defective keratinocytes differentiation associated with mutations in at least 14 genes including

Indexed as

Autosomal recessive congenital ichthyosisNovel and recurrent variantsPakistani familiesPNPLA1Whole-exome sequencing

Identifiers

PMID34899144
PMCPMC8613620
OpenAlexW3193667780

What OpenQuestion holds

Textmetadata
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.