Evidence map›Paper›PMID 40948707›Full record

ArticleThe application of clinical genetics2025

Hemizygous

Ning Zhang, Yi-Lin Sang, Wu Zhu, Yu-Rong Wang, Yan-Yan Yu, Ya-Hui Chen, Juan Du, Wen-Bin He, Yue-Qiu Tan, Fu-Yan Wang

Abstract read
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In one paragraph

Article in The application of clinical genetics, 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

10 authors.

Ning Zhang *Department of Immunology, Xiangya School of Basic Medical Sciences, Central South University, Changsha, Hunan, 410013, People's Republic of China.
Yi-Lin Sang *Department of Immunology, Xiangya School of Basic Medical Sciences, Central South University, Changsha, Hunan, 410013, People's Republic of China.
Wu ZhuDepartment of Immunology, Xiangya School of Basic Medical Sciences, Central South University, Changsha, Hunan, 410013, People's Republic of China.
Yu-Rong WangInstitute of Reproductive and Stem Cell Engineering, Xiangya School of Basic Medical Sciences, Central South University, Changsha, Hunan, 410078, People's Republic of China.
Yan-Yan YuInstitute of Reproductive and Stem Cell Engineering, Xiangya School of Basic Medical Sciences, Central South University, Changsha, Hunan, 410078, People's Republic of China.
Ya-Hui ChenDepartment of Immunology, Xiangya School of Basic Medical Sciences, Central South University, Changsha, Hunan, 410013, People's Republic of China.
Juan DuInstitute of Reproductive and Stem Cell Engineering, Xiangya School of Basic Medical Sciences, Central South University, Changsha, Hunan, 410078, People's Republic of China.
Wen-Bin HeReproductive and Genetic Hospital of CITIC-Xiangya & Clinical Research Center for Reproduction and Genetics in Hunan Province, Changsha, Hunan, 410078, People's Republic of China.
Yue-Qiu TanInstitute of Reproductive and Stem Cell Engineering, Xiangya School of Basic Medical Sciences, Central South University, Changsha, Hunan, 410078, People's Republic of China.
Fu-Yan WangDepartment of Immunology, Xiangya School of Basic Medical Sciences, Central South University, Changsha, Hunan, 410013, People's Republic of China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Purpose: X-linked severe combined immunodeficiency (X-SCID) is an inherited immune disorder caused by pathogenic variants in the Patients and Methods: Four families with suspected immunodeficiency were recruited from the Reproductive and Genetic Hospital of CITIC-Xiangya. Whole exome sequencing (WES) was used to identify the genetic etiology. Functional experiments were performed to assess the pathogenicity of the identified Results: WES identified four Conclusion: This study highlights the critical role of functional analysis in clarifying variant pathogenicity and provides a clear example of pathogenicity assessment for

Indexed as

IL2RGIL2RG localizationSTAT5 phosphorylationtranscriptional activityX-linked severe combined immunodeficiency

Identifiers

PMID40948707
PMCPMC12423446

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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.