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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TRIM8

Variant:p.P363L

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TRIM8

NM_030912.3:p.P363L

hg38:chr10:102656786 C>T

Associated Papers

A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder.

Szot JO et al.

The Journal of Clinical Investigation, 2024

38357931 (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."