Evidence map›Paper›PMID 38685849›Full record

ArticleArchives of Iranian medicine2024

Identification of a Novel Homozygous Mutation in

Amir Hossein Ebrahimi, Manzar Bolhassani, Mohammad Reza Zarei, Matin Heidari, Amin ArdeshirDavani, Amir Hosein Mehrtash, Zahra Shiri, Masoud Heidari, Morteza Soleyman-Nejad, Mohammad Hossein Taskhiri and 2 more

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PubMed Full text at PMC Publisher
In one paragraph

Article in Archives of Iranian medicine, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

12 authors.

Amir Hossein EbrahimiAriagene Medical Genetics Laboratory, Qom, Iran.ORCID 0000-0001-9132-1798
Manzar BolhassaniAriagene Medical Genetics Laboratory, Qom, Iran.ORCID 0009-0006-8716-9280
Mohammad Reza ZareiDepartment of Cellular and Molecular Genetics, Islamic Azad University North Tehran Branch, Tehran, Iran.ORCID 0000-0002-2634-7892
Matin HeidariAriagene Medical Genetics Laboratory, Qom, Iran.ORCID 0009-0008-7053-4784
Amin ArdeshirDavaniCimorgh Medical IT Solutions, Tehran Iran.
Amir Hosein MehrtashCimorgh Medical IT Solutions, Tehran Iran.
Zahra ShiriAriagene Medical Genetics Laboratory, Qom, Iran.ORCID 0009-0007-4659-9441
Masoud HeidariAriagene Medical Genetics Laboratory, Qom, Iran.ORCID 0000-0002-0599-3166
Morteza Soleyman-NejadAriagene Medical Genetics Laboratory, Qom, Iran.
Mohammad Hossein TaskhiriAriagene Medical Genetics Laboratory, Qom, Iran.
Arefeh NorouzbeigiAriagene Medical Genetics Laboratory, Qom, Iran.
Mansour HeidariAriagene Medical Genetics Laboratory, Qom, Iran.ORCID 0000-0002-6214-4638

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Hereditary sensory autonomic neuropathy type VIII (HSAN-VIII) is a rare genetic disease that occurs due to mutations in the

Indexed as

Carrier ProteinsHereditary Sensory and Autonomic NeuropathiesHomozygoteMutationDNA-Binding ProteinsExonsFemaleHumansInfantMaleNerve Tissue ProteinsPedigreeTranscription FactorsCarrier ProteinsDNA-Binding ProteinsNerve Tissue ProteinsPrdm12 protein, humanTranscription FactorsDuplication mutationHSAN-VIIIPRDM12 geneWhole exome sequencing

Identifiers

PMID38685849
PMCPMC11097304

What OpenQuestion holds

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Registered trials

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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.