Evidence map›Paper›PMID 40047934›Full record

SynthesisMolecular genetics and genomics : MGG2025

Trio-WES and functional validation reveals a novel splice site variant of SLC26A3 in a case with congenital chloride diarrhea and a systematic review of SLC26A3 mutations in China.

Ruixue Zhang, Hongping Li, Rong Qiang, XinRu Gao, Jinzhen Guo, Guoqiang Chen, Qin Nan, Limei Zhong, Lin Wang

Abstract readSystematic ReviewCase Reports
PubMed Publisher
In one paragraph

Synthesis in Molecular genetics and genomics : MGG, 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

9 authors.

Ruixue ZhangMedical Genetics Center, Northwest Women's and Children's Hospital, 1616 Yanxiang Road, Xi'an, Shaanxi Province, China.
Hongping LiBGI Genomics, BGI-Shenzhen, Shenzhen, China.
Rong QiangMedical Genetics Center, Northwest Women's and Children's Hospital, 1616 Yanxiang Road, Xi'an, Shaanxi Province, China.
XinRu GaoMedical Ultrasound Center, Northwest Women's and Children's Hospital, Xi'an, Shaanxi Province, China.
Jinzhen GuoNeonatal Intensive Care Unit, Northwest Women's and Children's Hospital, Xi'an, Shaanxi Province, China.
Guoqiang ChenPaediatric Internal Medicine, Northwest Women's and Children's Hospital, Xi'an, Shaanxi Province, China.
Qin NanMedical Genetics Center, Northwest Women's and Children's Hospital, 1616 Yanxiang Road, Xi'an, Shaanxi Province, China.
Limei ZhongMedical Ultrasound Center, Northwest Women's and Children's Hospital, Xi'an, Shaanxi Province, China.
Lin WangMedical Genetics Center, Northwest Women's and Children's Hospital, 1616 Yanxiang Road, Xi'an, Shaanxi Province, China. 253426630@qq.com.ORCID http://orcid.org/0000-0002-1588-588X

Funding

Shaanxi Key R & D Program Project 2023-YBSF-518
6 · The paper itself

Abstract

Congenital chloride diarrhea (CCD) is an autosomal recessive disease, characterized by watery diarrhea, hypochloremia and metabolic alkalosis. It is associated with defects in solute carrier family 26 member 3 (SLC26A3) which acts as Na

Indexed as

Chloride-Bicarbonate AntiportersDiarrheaMetabolism, Inborn ErrorsSulfate TransportersChinaExome SequencingFemaleHumansMutationPregnancyPrenatal DiagnosisRNA Splice SitesChloride-Bicarbonate AntiportersRNA Splice SitesSLC26A3 protein, humanSulfate TransportersCongenital chloride diarrheaMini-gene splicing assayPrenatal diagnosisSolute Carrier Family 26 Member 3

Identifiers

PMID40047934

What OpenQuestion holds

Textmetadata
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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.