Evidence map›Paper›PMID 41300842›Full record

ArticleGenes2025

High Allelic Heterogeneity in Kazakhstani Patients with Neurofibromatosis Type 1: Results from the First Molecular Study.

Zhannat Idrissova, Farida Rakhimbekova, Madina Orazgaliyeva, Madina Zhaksybek, Kristina Kovaleva, Saltanat Abdikerim, Aizhan Ormankyzy, Petr Vasiluev

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Genes, 2025. 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

8 authors.

Zhannat IdrissovaCompetence Center for Neurological Orphan Diseases, University Clinic Aksai, Asfendiyarov Kazakh National Medial University, Almaty 050067, Kazakhstan.
Farida RakhimbekovaGenomic Laboratory, Asfendiyarov Kazakh National Medial University, Almaty 050012, Kazakhstan.ORCID 0000-0002-6673-1530
Madina OrazgaliyevaCenter for Molecular Genetic Research, Kazakh Institute of Oncology and Radiology, Almaty 050022, Kazakhstan.
Madina ZhaksybekDepartment of Neurology, University Clinic Aksai, Asfendiyarov Kazakh National Medial University, Almaty 050067, Kazakhstan.
Kristina KovalevaGenomic Laboratory, Asfendiyarov Kazakh National Medial University, Almaty 050012, Kazakhstan.ORCID 0000-0002-6173-4636
Saltanat AbdikerimInstitute of Genetics and Physiology, Almaty 050060, Kazakhstan.
Aizhan OrmankyzyDepartment of Medicine, Astana Medical University, Almaty 010000, Kazakhstan.ORCID 0000-0002-0615-9958
Petr VasiluevAcademician N.P. Bochkov Research Centre for Medical Genetics (RCMG), Moscow 115522, Russia.

Funding

Ministry of Science and Higher Education of the Republic of Kazakhstan AP19676226
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

Genetic HeterogeneityNeurofibromatosis 1Neurofibromin 1AdolescentAdultAllelesChildChild, PreschoolFemaleGenetic Association StudiesHigh-Throughput Nucleotide SequencingHumansInfantKazakhstanMaleMutationNeurofibromin 1NF1 protein, humanKazakh cohortmissense variantsneurofibromatosis 1nonsense variantsplexiform neurofibroma

Identifiers

PMID41300842
PMCPMC12652172

What Socratic holds

Textmetadata
LicenceCC BY
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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 Socratic graph.