Evidence map›Paper›PMID 37745859›Full record

ArticleFrontiers in genetics2023

Case report: genetic analysis of a novel frameshift mutation in FMR1 gene in a Chinese family.

Chunlei Jin, Xiangdong Zhang, Qiang Lei, Penglong Chen, Hui Hu, Shuangshuang Shen, Jiao Liu, Shixuanbao Ye

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

Article in Frontiers in genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Article
  2. 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

8 authors.

Chunlei JinCenter of Medical Prenatal Diagnosis, Lishui Maternity and Child Health Care Hospital, Lishui, China.
Xiangdong ZhangCenter of Medical Prenatal Diagnosis, Lishui Maternity and Child Health Care Hospital, Lishui, China.
Qiang LeiCenter of Medical Prenatal Diagnosis, Lishui Maternity and Child Health Care Hospital, Lishui, China.
Penglong ChenCenter of Medical Prenatal Diagnosis, Lishui Maternity and Child Health Care Hospital, Lishui, China.
Hui HuCenter of Medical Prenatal Diagnosis, Lishui Maternity and Child Health Care Hospital, Lishui, China.
Shuangshuang ShenCenter of Medical Prenatal Diagnosis, Jinhua Maternity and Child Health Care Hospital, Jinhua, China.
Jiao LiuCenter of Medical Prenatal Diagnosis, Lishui Maternity and Child Health Care Hospital, Lishui, China.
Shixuanbao YeCenter of Medical Prenatal Diagnosis, Lishui Maternity and Child Health Care Hospital, Lishui, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Fragile X syndrome (FXS) [OMIM 300624] is a common X-linked inherited syndrome with an incidence only second to that of trisomy 21. More than 95% of fragile X syndrome is caused by reduced or absent fragile X intellectual disability protein 1 (FMRP) synthesis due to dynamic mutation expansion of the CGG triplet repeat in the 5'UTR and abnormal methylation of the

Indexed as

CGG repeat expansionFMR1FMRPfragile X syndromeWES

Identifiers

PMID37745859
PMCPMC10512415

What OpenQuestion 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 OpenQuestion graph.