Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A8
Variant:p.S329I
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SLC6A8

NM_005629.4:p.S329I

Associated Papers

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

Lyons EL et al.

Bmc Genomics, 2023

37587458 (PubMed )
Supplement: 12864_2023_9561_MOESM1_ESM.xlsx › CuratedVariants
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