Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A8
Variant:p.A323P
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SLC6A8

NM_005629.4:p.A323P

Associated Papers

Diagnosis and Treatment of X-Linked Creatine Transporter Deficiency: Case Report and Literature Review.

Li J et al.

Brain Sciences, 2023

37891751 (PubMed )
Supplement: brainsci-13-01382-s001.zip › brainsci-2561128-supplementary.pdf

Fourteen cases of cerebral creatine deficiency syndrome in children: a cohort study in China.

Sun W et al.

Translational Pediatrics, 2023

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