Varaico: Literature-Extracted Genetic Variants

Gene:AMBRA1
Variant:p.Q30R
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AMBRA1

NM_001387011.1:p.Q30R

Associated Papers

Molecular and genetic evidence for the role of AMBRA1 in suppressing S-phase entry and tumorigenesis.

Akatsuka H et al.

Iscience, 2025

AMBRA1 p.Gln30Arg Mutation, Identified in a Cowden Syndrome Family, Exhibits Hyperproliferative Potential in hTERT-RPE1 Cells.

Revathidevi S et al.

International Journal of Molecular Sciences, 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."