Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A8
Variant:p.A448D
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SLC6A8

NM_005629.4:p.A448D

Associated Papers

Structural insights into the substrate uptake and inhibition of the human creatine transporter (hCRT).

Yuan X et al.

Proceedings of the National Academy of Sciences of the United States of America, 2025

Rare disease variant curation from literature: assessing gaps with creatine transport deficiency in focus.

Lyons EL et al.

Bmc Genomics, 2023

The Creatine Transporter Unfolded: A Knotty Premise in the Cerebral Creatine Deficiency Syndrome.

Farr CV et al.

Frontiers in Synaptic Neuroscience, 2020

SLC6 Transporter Folding Diseases and Pharmacochaperoning.

Freissmuth M et al.

Handbook of Experimental Pharmacology, 2018

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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."