Varaico: Literature-Extracted Genetic Variants

Gene:TRIM8
Variant:p.C367fs
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TRIM8

NM_030912.3:p.C367fs

Associated Papers

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

A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders.

George AJ et al.

Frontiers in Genetics, 2018

29491882 (PubMed )
Supplement: Table2.xlsx › Sheet1

De Novo Truncating Mutation of TRIM8 Causes Early-Onset Epileptic Encephalopathy.

Sakai Y et al.

Annals of Human Genetics, 2016

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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."