Evidence map›Paper›PMID 35545335›Full record

ArticleZhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences2022

Whole-exome sequencing in diagnosing 2 cases of Gitelman syndrome.

Rongrong Xie, Ping Jin, Youbo Yang, Qin Zhang, Jing Xiong

Abstract read
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In one paragraph

Article in Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences, 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
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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

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5 · Who and what money

Authors and funding

5 authors.

Rongrong XieDepartment of Endorcrinology, Third Xiangya Hospital, Central South University, Changsha 410013, China. 364692626@qq.com.
Ping JinDepartment of Endorcrinology, Third Xiangya Hospital, Central South University, Changsha 410013, China.
Youbo YangDepartment of Endorcrinology, Third Xiangya Hospital, Central South University, Changsha 410013, China.
Qin ZhangDepartment of Endorcrinology, Third Xiangya Hospital, Central South University, Changsha 410013, China.
Jing XiongDepartment of Endorcrinology, Third Xiangya Hospital, Central South University, Changsha 410013, China. 1260639347@qq.com.

Funding

the National Natural Science Foundation 81670730the Natural Science Foundation of Hunan Province 2021JJ31007the Science and Research Project of Hunan Provincial Health Commission 202103061081
6 · The paper itself

Abstract

Two patients with Gitelman syndrome were admitted to the Department of Endocrinology, Third Xiangya Hospital of Central South University. The genomic DNA from the patients' peripheral blood was extracted and the whole-exome sequencing was performed to detect the possible mutations. The function of the mutation sites was analyzed by bioinformatics software. Through whole-exome sequencing and Sanger sequencing, we have found that 2 patients with Gitelman syndrome carried compound heterozygous mutations of

Indexed as

Gitelman SyndromeExome SequencingGenetic TestingHumansMutationPedigreeSolute Carrier Family 12, Member 3SLC12A3 protein, humanSolute Carrier Family 12, Member 3Gitelman syndromehypokalemiaSLC12A3whole-exome sequencing

Identifiers

PMID35545335
PMCPMC10930056

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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.