Evidence map›Paper›PMID 39456768›Full record

ArticleInternational journal of molecular sciences2024

A De Novo Splicing Mutation of

Zixuan Wang, Jun Zhang, Yunfei Zhou, Guicen Liu, Zixin Tian, Xi Song

Abstract readCase Reports
In one paragraph

Article in International journal of molecular sciences, 2024. 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.

Zixuan WangDepartment of Cell Biology, and Genetics, Institute of Molecular Medicine, and Oncology, Chongqing Medical University, Chongqing 400016, China.
Jun ZhangDepartment of Cell Biology, and Genetics, Institute of Molecular Medicine, and Oncology, Chongqing Medical University, Chongqing 400016, China.ORCID 0000-0002-9549-4773
Yunfei ZhouDepartment of Cell Biology, and Genetics, Institute of Molecular Medicine, and Oncology, Chongqing Medical University, Chongqing 400016, China.
Guicen LiuDepartment of Cell Biology, and Genetics, Institute of Molecular Medicine, and Oncology, Chongqing Medical University, Chongqing 400016, China.
Zixin TianDepartment of Cell Biology, and Genetics, Institute of Molecular Medicine, and Oncology, Chongqing Medical University, Chongqing 400016, China.
Xi SongDepartment of Cell Biology, and Genetics, Institute of Molecular Medicine, and Oncology, Chongqing Medical University, Chongqing 400016, China.ORCID 0000-0001-5147-7683

Funding

Chongqing science and technology bureau cstc2018jcyjAX0796
6 · The paper itself

Abstract

Deleterious variations in

Indexed as

Munc18 ProteinsMutationRNA SplicingSpasms, InfantileChild, PreschoolFemaleHaploinsufficiencyHereditary Central Nervous System Demyelinating DiseasesHumansInfantPhenotypeMunc18 ProteinsSTXBP1 protein, humanCRISPR/Cas9early infantile epileptic encephalopathyhaploinsufficiencyhypomyelinating leukodystrophynonsense-mediated mRNA decaysplicing mutationSTXBP1whole-exome sequencing

Identifiers

PMID39456768
PMCPMC11507417

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.