Varaico: Literature-Extracted Genetic Variants

Gene:TRIM8
Variant:p.Y446*
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TRIM8

NM_030912.3:p.Y446*

Associated Papers

A Rare De Novo Mutation in the TRIM8 Gene in a 17-Year-Old Boy with Steroid-Resistant Nephrotic Syndrome: Case Report.

Badeńska M et al.

International Journal of Molecular Sciences, 2024

Variants loci and phenotype correlation of TRIM8-related neuro-renal syndrome: three cases reports and literature review.

Lv Q et al.

Frontiers in Neurology, 2024

Focal segmental glomerulosclerosis and neurogenic bladder in a Chinese patient with a novel de novo pathogenic variation in TRIM8 gene: A case report.

Luo DY et al.

Sage Open Medical Case Reports, 2024

De novo truncating variants of TRIM8 and atypical neuro-renal syndrome: a case report and literature review.

Li W et al.

Italian Journal of Pediatrics, 2023

37061734 (PubMed )
Supplement: 13052_2023_1453_MOESM1_ESM.pdf

Two Children With Steroid-Resistant Significant Proteinuria Due to Nonsense Mutations of the TRIM8 Gene: A Case Report and Literature Review.

Li X et al.

Frontiers in Pediatrics, 2022

Further delineation of the clinical spectrum of de novo TRIM8 truncating mutations.

Assoum M et al.

American Journal of Medical Genetics. Part A, 2018

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."