Varaico: Literature-Extracted Genetic Variants

Gene:AK1
Variant:p.T39A
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AK1

NM_000476.3:p.T39A

Associated Papers

Targeted next-generation sequencing identifies eighteen novel mutations expanding the molecular and clinical spectrum of PKLR gene disorders in the Indian population.

Dongerdiye R et al.

Annals of Hematology, 2023

ADP-Induced Conformational Transition of Human Adenylate Kinase 1 Is Triggered by Suppressing Internal Motion of α3α4 and α7α8 Fragments on the ps-ns Timescale.

Guo C et al.

Biomolecules, 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."