Evidence map›Paper›PMID 40612795›Full record

ArticleFrontiers in genetics2025

Two novel variants in

Huijuan Li, Jing Liu, Yingdi Liu, Yaning Liu, Kehui Lu, Juan Wen, Huimin Zhu, Desheng Liang, Zhuo Li, Lingqian Wu

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in 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.

Huijuan LiMOE Key Lab of Rare Pediatric Diseases, Center for Medical Genetics, Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, China.
Jing LiuHunan Provincial Key Laboratory of Regional Hereditary Birth Defects Prevention and Control, Changsha Hospital for Maternal and Child Healthcare, Hunan Normal University, Changsha, China.
Yingdi LiuMOE Key Lab of Rare Pediatric Diseases, Center for Medical Genetics, Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, China.
Yaning LiuMOE Key Lab of Rare Pediatric Diseases, Center for Medical Genetics, Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, China.
Kehui LuMOE Key Lab of Rare Pediatric Diseases, Center for Medical Genetics, Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, China.
Juan WenMOE Key Lab of Rare Pediatric Diseases, Center for Medical Genetics, Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, China.
Huimin ZhuMOE Key Lab of Rare Pediatric Diseases, Center for Medical Genetics, Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, China.
Desheng LiangMOE Key Lab of Rare Pediatric Diseases, Center for Medical Genetics, Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, China.
Zhuo LiMOE Key Lab of Rare Pediatric Diseases, Center for Medical Genetics, Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, China.
Lingqian WuMOE Key Lab of Rare Pediatric Diseases, Center for Medical Genetics, Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Hypomagnesemia, seizures, and impaired intellectual development 1 (HOMGSMR1) is a rare neurodevelopmental disorder associated with magnesium homeostasis disruption, caused by mutations in the Methods: We recruited two unrelated families with NDDs, and potential variants were identified through whole exome sequencing and confirmed by Sanger sequencing. Quantitative PCR, Western blotting, immunofluorescent staining, and flow cytometry were used to assess functional changes in candidate Results: Two novel variants, p.E298del and p.P360R, in Conclusion: Our study expands the mutation and phenotypic spectrum, as well as the functional studies of

Indexed as

CNNM2hypomagnesemiaintellectual disabilityseizureswhole exome sequencing

Identifiers

PMID40612795
PMCPMC12222124

What Socratic holds

Textmetadata
LicenceCC BY
Read underepoch 390

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.