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
A novel SLC6A8 mutation associated with motor dysfunction in a child exhibiting creatine transporter deficiency.
Cervera-Acedo C et al.
Human Genome Variation, 2015
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