Varaico: Literature-Extracted Genetic Variants

Gene:TRIM8
Variant:p.C367fs
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TRIM8

NM_030912.3:p.C367fs

Associated Papers

Prioritizing de novo potential non-canonical splicing variants in neurodevelopmental disorders.

Li K et al.

Ebiomedicine, 2024

38113761 (PubMed )
Supplement: mmc2.xlsx › Table_S4

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

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

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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."