Evidence map›Paper›PMID 41751872›Full record

ArticleInternational journal of molecular sciences2026

Phenotypic Variability Associated with Jagunal Homolog 1 (JAGN1) Deficiency Caused by the c.63G>T Variant.

Cristina-Loredana Pantea, Mihaela Bataneant, Cristian G Zimbru, Margit Serban, Maria Puiu, Adela Chirita-Emandi

Abstract read
In one paragraph

Article in International journal of molecular sciences, 2026. 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
–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

1 citing paper in PubMed.

  1. 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

6 authors.

Cristina-Loredana PanteaRegional Center of Medical Genetics Timis, Clinical Emergency Hospital for Children "Louis Turcanu", Part of ERN-ITHACA, 300011 Timisoara, Romania.ORCID 0009-0000-2016-6620
Mihaela BataneantSecond Pediatric Clinic, Clinical Emergency Hospital for Children "Louis Turcanu", 300011 Timisoara, Romania.
Cristian G ZimbruDepartment of Automation and Applied Informatics, Politehnica University of Timisoara, 300006 Timisoara, Romania.ORCID 0000-0002-2652-0931
Margit SerbanHematology and Oncology Department, Clinical Emergency Hospital for Children "Louis Turcanu", 300011 Timisoara, Romania.ORCID 0000-0003-0468-7172
Maria PuiuDoctoral School, "Victor Babes" University of Medicine and Pharmacy, 300041 Timisoara, Romania.ORCID 0000-0002-4078-2831
Adela Chirita-EmandiRegional Center of Medical Genetics Timis, Clinical Emergency Hospital for Children "Louis Turcanu", Part of ERN-ITHACA, 300011 Timisoara, Romania.ORCID 0000-0001-7554-4625

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

More than 30 distinct genetic entities associated with severe congenital neutropenia (SCN) have been described. SCN has a risk of clonal expansion of mutated hematopoietic cells. Jagunal homolog 1 (JAGN1) deficiency has been described as a genetic cause of SCN and is now estimated to account for approximately 10% of all SCN cases. One prevalent variant in patients with JAGN1 deficiency is NM_032492.4:c.63G>T (p.Glu21Asp). The clinical description and disease evolution study of Romanian patients with JAGN1 deficiency caused by the

Indexed as

Congenital Bone Marrow Failure SyndromesNeutropeniaAdolescentChildChild, PreschoolFemaleHumansInfantMaleMembrane ProteinsMutationPhenotypeRomaniaJAGN1 protein, humanMembrane Proteinscongenital neutropeniaJAGN1 deficiencynext-generation sequencing

Identifiers

PMID41751872
PMCPMC12940244

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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.