Varaico: Literature-Extracted Genetic Variants

Gene:TYRP1
Variant:p.L127F
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TYRP1

NM_000550.3:p.L127F

Associated Papers

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

Szot JO et al.

The Journal of Clinical Investigation, 2024

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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."