ArticleAnnals of translational medicine2021
Functional assessment of a novel
Article in Annals of translational medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
What it found
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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.
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Who cites it
5 citing papers in PubMed.
- Increased risk of kidney failure in patients with genetic kidney disorders.The Journal of clinical investigation · 2024Trial
- Identification of novel COL4A5 variants and prenatal diagnosis in three large families.Scientific reports · 2025Article
- Targeted exome sequencing for molecular diagnosis of pediatric Alport syndrome in Southwest China.Frontiers in genetics · 2025Article
- A case report: Alport syndrome and growth hormone deficiency associated with a newTranslational pediatrics · 2024Article
- Identification of Four NovelFrontiers in genetics · 2022Article
Corrections and comments
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Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundChronic kidney disease caused by X-linked Alport syndrome (XLAS) is relatively rare. However, due to the nonspecific pathologic and clinical manifestations of this disease, it is easily misdiagnosed. Genetic testing is crucial in identifying suspected cases. In addition, the results of genetic testing are an important indicator of patient prognosis. This study demonstrated a novel pathogenic
methodsTargeted next generation sequencing (NGS) was performed to identify the gene variant in the family members, and the gene mutation site was confirmed by Sanger sequencing. We then further analyzed the consequences of this gene mutation on the translated protein of this variant using
resultsA novel splice region variant, c.1033-2(IVS 18) A>G, in
conclusionsOur present finding expands the mutational spectrum for the
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Registered trials
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