Varaico: Literature-Extracted Genetic Variants

Gene:CREBBP
Variant:p.Q2043Q
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CREBBP

NM_004380.3:p.Q2043Q

Associated Papers

A Nonsense Mitochondrial DNA Mutation Associates with Dysfunction of HIF1α in a Von Hippel-Lindau Renal Oncocytoma.

De Luise M et al.

Oxidative Medicine and Cellular Longevity, 2019

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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."