Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A8
Variant:p.E558D
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SLC6A8

NM_005629.4:p.E558D

Associated Papers

Diagnostic delay in cerebral creatine deficiency disorders: lessons learned from a cross-sectional single center study, and guanidinoacetate and creatine measurements in Switzerland between 2015 and 2023.

Kaufman C et al.

Molecular and Cellular Pediatrics, 2025

39838169 (PubMed )
Supplement: 40348_2024_188_MOESM2_ESM.xlsx › Patient_cohort
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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."