Evidence map›Paper›PMID 39634429›Full record

ArticleHeliyon2024

Genetic analysis and counseling of ADPKD caused by novel heterozygous mutations of

Yanan Wang, Jiapei Jin, Yuqiong Chai, Pai Zhang, Weiwei Zang

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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

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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

5 authors.

Yanan WangDepartment of Medical Genetics and Prenatal Diagnosis, Luoyang Maternal and Child Health Hospital, Luoyang, Henan, 471000, China.
Jiapei JinDepartment of Medical Genetics and Prenatal Diagnosis, Luoyang Maternal and Child Health Hospital, Luoyang, Henan, 471000, China.
Yuqiong ChaiDepartment of Medical Genetics and Prenatal Diagnosis, Luoyang Maternal and Child Health Hospital, Luoyang, Henan, 471000, China.
Pai ZhangDepartment of Medical Genetics and Prenatal Diagnosis, Luoyang Maternal and Child Health Hospital, Luoyang, Henan, 471000, China.
Weiwei ZangDepartment of Medical Genetics and Prenatal Diagnosis, Luoyang Maternal and Child Health Hospital, Luoyang, Henan, 471000, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary kidney disease, characterized by the progressive formation of multiple cysts in both kidneys, destruction of the renal structure, changes in renal function and eventually leading to end-stage renal failure and renal transplantation. In our study, Whole-exome sequencing (WES) was used to identify the responsible mutation of ADPKD in two unrelated Chinese PKD families. The WES revealed three variants in the

Indexed as

ADPKDCase reportMissense variationPKD1Whole-exome sequencing

Identifiers

PMID39634429
PMCPMC11615473

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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.