Evidence map›Paper›PMID 39170411›Full record

ArticleHeliyon2024

Novel mutation in the

Jicai Zhu, Minming Ma, Xiaofang Chen, Caiyun Xiong, Yan Ju, Tang Chunhui

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

Article in Heliyon, 2024. 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

6 authors.

Jicai ZhuDepartment of Pediatrics, The First People's Hospital of Yunnan Province, Medical School & Affiliated Hospital, Kunming University of Science and Technology, Kunming, Yunnan, China.
Minming MaDepartment of Pediatrics, The First People's Hospital of Yunnan Province, Medical School & Affiliated Hospital, Kunming University of Science and Technology, Kunming, Yunnan, China.
Xiaofang ChenDepartment of Pediatrics, The First People's Hospital of Yunnan Province, Medical School & Affiliated Hospital, Kunming University of Science and Technology, Kunming, Yunnan, China.
Caiyun XiongDepartment of Pediatrics, The First People's Hospital of Yunnan Province, Medical School & Affiliated Hospital, Kunming University of Science and Technology, Kunming, Yunnan, China.
Yan JuDepartment of Pediatrics, The First People's Hospital of Yunnan Province, Medical School & Affiliated Hospital, Kunming University of Science and Technology, Kunming, Yunnan, China.
Tang ChunhuiDepartment of Pediatrics, The First People's Hospital of Yunnan Province, Medical School & Affiliated Hospital, Kunming University of Science and Technology, Kunming, Yunnan, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a rare autosomal recessive hereditary disease. Immunoglobulin μ-binding protein 2 ( Case presentation: Here we describe a female infant with SMARD1 carrying heterozygous mutations in Conclusions:

Indexed as

Fat padIGHMBP2Respiratory failureSpinal muscular atrophy with respiratory distress type 1

Identifiers

PMID39170411
PMCPMC11337098

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.