Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A8
Variant:p.G310delFs
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SLC6A8

NM_005629.4:p.G310delFs

Associated Papers

Prominent U-waves without QT prolongation in X-linked creatine transporter deficiency caused by SLC6A8 variants.

Delinière A et al.

Heart Rhythm, 2026

Screening for primary creatine deficiencies in French patients with unexplained neurological symptoms.

Cheillan D et al.

Orphanet Journal of Rare Diseases, 2012

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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."