Evidence map›Paper›PMID 41199744›Full record

ArticleFrontiers in genetics2025

Case Report: a novel missense variant of

Meng-Wei Liu, Yi Dong, Rong Xiang, Liping Wu

Abstract readCase Reports
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

4 authors.

Meng-Wei LiuLonggang District Maternity and Child Healthcare Hospital of Shenzhen City (Affiliated Shenzhen Women and Children's Hospital (Longgang) of Shantou University Medical College), Shenzhen, China.
Yi DongSchool of Life Sciences, Central South University, Changsha, China.
Rong XiangSchool of Life Sciences, Central South University, Changsha, China.
Liping WuLonggang District Maternity and Child Healthcare Hospital of Shenzhen City (Affiliated Shenzhen Women and Children's Hospital (Longgang) of Shantou University Medical College), Shenzhen, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Congenital heart disease (CHD) is among the most prevalent birth defects in newborns, with tetralogy of Fallot (TOF) being a classic example. Within weeks to months after birth, infants with TOF often exhibit cyanosis of the skin, lips, or nails and respiratory distress. Early medical intervention is crucial to enhance outcomes and ensure a better long-term prognosis. Methods and results: A young Chinese couple was referred for prenatal counseling at a gestational age of 26 Conclusion: We identified a novel heterozygous missense variant of

Indexed as

FGD5genetic variantirregular dominancetetralogy of Fallotwhole-exome sequencing

Identifiers

PMID41199744
PMCPMC12588575

What OpenQuestion holds

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Registered trials

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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.