Evidence map›Paper›PMID 37107627›Full record

ArticleGenes2023

Identification of

Safeer Ahmad, Muhammad Zeeshan Ali, Muhammad Muzammal, Amjad Ullah Khan, Muhammad Ikram, Mari Muurinen, Shabir Hussain, Petra Loid, Muzammil Ahmad Khan, Outi Mäkitie

Open access · goldAbstract read
In one paragraph

Article in Genes, 2023. 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
0.8field-weighted citation impact, top 30% 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, 3 citations in OpenAlex.

  1. Article
  2. NovelGenes · 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

10 authors at 2 institutions in 2 countries.

Safeer AhmadGomal Center of Biochemistry and Biotechnology, Gomal University, Dera Ismail Khan 29050, Pakistan.
Muhammad Zeeshan AliGomal Center of Biochemistry and Biotechnology, Gomal University, Dera Ismail Khan 29050, Pakistan.
Muhammad MuzammalGomal Center of Biochemistry and Biotechnology, Gomal University, Dera Ismail Khan 29050, Pakistan.
Amjad Ullah KhanGomal Center of Biochemistry and Biotechnology, Gomal University, Dera Ismail Khan 29050, Pakistan.
Muhammad IkramGomal Center of Biochemistry and Biotechnology, Gomal University, Dera Ismail Khan 29050, Pakistan.
Mari MuurinenResearch Program for Clinical and Molecular Metabolism, Faculty of Medicine, University of Helsinki, 00290 Helsinki, Finland.
Shabir HussainResearch Program for Clinical and Molecular Metabolism, Faculty of Medicine, University of Helsinki, 00290 Helsinki, Finland.
Petra LoidResearch Program for Clinical and Molecular Metabolism, Faculty of Medicine, University of Helsinki, 00290 Helsinki, Finland.
Muzammil Ahmad KhanGomal Center of Biochemistry and Biotechnology, Gomal University, Dera Ismail Khan 29050, Pakistan.ORCID 0000-0001-8591-0377
Outi MäkitieResearch Program for Clinical and Molecular Metabolism, Faculty of Medicine, University of Helsinki, 00290 Helsinki, Finland.ORCID 0000-0002-4547-001X
Gomal University · PKUniversity of Helsinki · FI

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Polydactyly is a rare autosomal dominant or recessive appendicular patterning defect of the hands and feet, phenotypically characterized by the duplication of digits. Postaxial polydactyly (PAP) is the most common form and includes two main types: PAP type A (PAPA) and PAP type B (PAPB). Type A involves a well-established extra digit articulated with the fifth or sixth metacarpal, while type B presents a rudimentary or poorly developed superfluous digit. Pathogenic variants in several genes have been identified in isolated and syndromic forms of polydactyly. The current study presents two Pakistani families with autosomal recessive PAPA with intra- and inter-familial phenotype variability. Whole-exome sequencing and Sanger analysis revealed a novel missense variant in

Indexed as

PolydactylyFingersHumansMutationToesZinc Finger Protein GLI1GLI1 protein, humanZinc Finger Protein GLI1GLI1KIAA0825Pakistanipolydactyly

Identifiers

PMID37107627
PMCPMC10137575
OpenAlexW4362618264

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.