Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A8
Variant:p.R502C
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SLC6A8

NM_005629.4:p.R502C

Associated Papers

ProteoMutaMetrics: machine learning approaches for solute carrier family 6 mutation pathogenicity prediction.

Huang J et al.

Rsc Advances, 2024

SIGMA leverages protein structural information to predict the pathogenicity of missense variants.

Zhao H et al.

Cell Reports Methods, 2024

38211594 (PubMed )
Supplement: mmc2.xlsx › Sheet1

Experimental and Computational Analysis of Newly Identified Pathogenic Mutations in the Creatine Transporter SLC6A8.

Ferrada E et al.

Journal of Molecular Biology, 2024

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