Pub. Date : 2021 Mar 1
PMID : 33459166
1 Functional Relationships(s)Download |
Sentence | Compound Name | Protein Name | Organism |
1 | A heterozygous mutation (c.643C.A; p.Q215X) in the creatine transporter SLC16A12 was proposed to cause a syndrome with juvenile cataracts, microcornea and glucosuria in humans. | Creatine | solute carrier family 16 member 12 | Homo sapiens |