Evidence map›Paper›PMID 39479399›Full record

ArticleFrontiers in genetics2024

Case report: Successful PGT-M based on the identification of a spliceogenic variant in the

Huiling Xu, Jiajie Pu, Zhengzhong Wu, Shuhan Guo, Xuemei Li

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in genetics, 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. Case Report: A 3' splice site variation inFrontiers in genetics · 2024
    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

5 authors.

Huiling XuDepartment of Reproductive Medicine, Shenzhen Maternity and Child Healthcare Hospital, Shenzhen, Guangdong, China.
Jiajie PuDepartment of Bioinformatics, 01Life Institute, Shenzhen, Guangdong, China.
Zhengzhong WuDepartment of Reproductive Medicine, Shenzhen Maternity and Child Healthcare Hospital, Shenzhen, Guangdong, China.
Shuhan GuoDepartment of Reproductive Medicine, Shenzhen Maternity and Child Healthcare Hospital, Shenzhen, Guangdong, China.
Xuemei LiDepartment of Reproductive Medicine, Shenzhen Maternity and Child Healthcare Hospital, Shenzhen, Guangdong, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

With the development of high-throughput sequencing, the genetic etiology of many diseases has been revealed. However, this has also led to the categorization of many variants as variants of uncertain significance (VUSs), presenting a major challenge in genetic counseling. A couple with a history of adverse pregnancies sought assisted reproductive technology. Trio-WES revealed that they individually carried the following variants in the

Indexed as

minigenemRNA splicingPGT-MRPGRIP1L geneVUS

Identifiers

PMID39479399
PMCPMC11521898

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.