The association between SLC16A1 (Solute Carrier Family 16 Member 1) and Monocarboxylate Transporter 1 Deficiency is well established and manually curated, with its 3 contributing sources — 3 of them expert-curated — recording a known molecular basis, pathogenic and likely-pathogenic variants, and causative variation.
Sources3
Clinical variants12
Symptoms12
Compounds0
Trials0
Publications1
01
At a glance
Association overview
A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.
