Evidence map›Paper›PMID 35422838›Full record

ArticleFrontiers in genetics2022

Case Report: Identification of a Novel Heterozygous Missense Mutation in

Yanglin Hu, Wei Li, Lulu Tian, Shuai Fu, Yonglong Min, Jia Liu, Fei Xiong

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

Article in Frontiers in genetics, 2022. 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

7 authors.

Yanglin HuDepartment of Nephrology, Wuhan No.1 Hospital, Wuhan, China.
Wei LiDepartment of Endocrinology, Wuhan No.1 Hospital, Wuhan, China.
Lulu TianDepartment of Blood Purification, Central Theater General Hospital, Wuhan, China.
Shuai FuDepartment of Nephrology, Wuhan No.1 Hospital, Wuhan, China.
Yonglong MinDepartment of Nephrology, Wuhan No.1 Hospital, Wuhan, China.
Jia LiuDepartment of Nephrology, Wuhan No.1 Hospital, Wuhan, China.
Fei XiongDepartment of Nephrology, Wuhan No.1 Hospital, Wuhan, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Alport syndrome (AS) is a genetic kidney disease of basement membrane collagen disorder accounting for approximately 2% of ESRD patients. Next-generation and whole-exome sequencing methods are increasingly frequently used as an efficient tool not only for the diagnosis of AS but also for the establishment of genotype-phenotype correlation. We herein report the identification of a novel heterozygous missense mutation in

Indexed as

Alport syndromeCOL4A3collagen type IVhuman geneticsnext-generation sequencingnovel variantwhole-exome sequencing

Identifiers

PMID35422838
PMCPMC9001967

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.