ArticleDiagnostics (Basel, Switzerland)2025
Novel Splice Variant in the
Ha Minh Nguyen, Nguyen Thi Kim Lien, Thinh Huy Tran, Ngoc Lan Nguyen, Suong Bang Thi Nguyen, Thi Hong Chau Bui, Nguyen Van Tung, Le Tat Thanh, Nguyen Thi Xuan, Van Khanh Tran and 1 more
Abstract readCase Reports
In one paragraphArticle in Diagnostics (Basel, Switzerland), 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
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 registryThe 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 literatureWho cites it
0 citing papers in PubMed.
No citing paper in PubMed yet.
4 · The recordCorrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
5 · Who and what moneyAuthors and funding
11 authors.
Ha Minh NguyenBiomedical Research Center, Pham Ngoc Thach University of Medicine, Ho Chi Minh 700000, Vietnam.ORCID 0000-0001-5125-1828 Nguyen Thi Kim LienInstitute of Biology, Vietnam Academy of Science and Technology, Hanoi 100000, Vietnam.ORCID 0000-0001-9294-6722 Thinh Huy TranCenter for Gene and Protein Research, Department of Molecular Pathology, Faculty of Medical Technology, Hanoi Medical University, Ministry of Health, Hanoi 100000, Vietnam.
Ngoc Lan NguyenCenter for Gene and Protein Research, Department of Molecular Pathology, Faculty of Medical Technology, Hanoi Medical University, Ministry of Health, Hanoi 100000, Vietnam.
Suong Bang Thi NguyenBiochemistry Department, University of Medicine and Pharmacy at Ho Chi Minh City, Ho Chi Minh 700000, Vietnam.
Thi Hong Chau BuiBiochemistry Department, University of Medicine and Pharmacy at Ho Chi Minh City, Ho Chi Minh 700000, Vietnam.
Nguyen Van TungInstitute of Biology, Vietnam Academy of Science and Technology, Hanoi 100000, Vietnam.ORCID 0000-0003-4624-5567 Le Tat ThanhInstitute of Biology, Vietnam Academy of Science and Technology, Hanoi 100000, Vietnam.
Nguyen Thi XuanInstitute of Biology, Vietnam Academy of Science and Technology, Hanoi 100000, Vietnam.ORCID 0000-0003-3494-5136 Van Khanh TranCenter for Gene and Protein Research, Department of Molecular Pathology, Faculty of Medical Technology, Hanoi Medical University, Ministry of Health, Hanoi 100000, Vietnam.
Nguyen Huy HoangInstitute of Biology, Vietnam Academy of Science and Technology, Hanoi 100000, Vietnam.ORCID 0000-0002-6284-5813 Funding
No grant is acknowledged in the PubMed record.
6 · The paper itselfAbstract
Spondylocostal dysostosis (SCDO) is a group of rare genetic disorders characterized by segmental vertebral defects and rib deformities due to congenital misalignment, fusion, or reduction in the number of ribs. The causes of the disease have been found in seven genes, including
Indexed as
HES7 genenovel splicing variantspondylocostal dysostosisVietnamese patientswhole-exome sequencing
Identifiers
PMID40647586
PMCPMC12248465
What Socratic holds
Textmetadata
LicenceCC BY
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