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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TRIM8

Variant:p.Q453_Q454delins

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TRIM8

NM_030912.3:p.Q453_Q454delins

hg38:chr10:102657057 GC>TT

Associated Papers

A nonsense mutation in the Tripartite motif containing 8 (TRIM8) gene, mimicking collagenopathy.

Rahman RK et al.

Pediatric Nephrology (berlin, Germany), 2025

39708126 (PubMed )

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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."