SOLUTE CARRIER FAMILY 28 (SODIUM-COUPLED NUCLEOSIDE TRANSPORTER), MEMBER 1; SLC28A1 | |
CONCENTRATIVE NUCLEOSIDE TRANSPORTER 1; CNT1 ; | |
606207
OMIM = Online Mendelian Inheritance of Men | |
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15q25.3 |
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benign metabolic phenotype? | |
Laboratory findings | Cytidine inc (urine) Uridine inc (urine) |
Symptoms | no clinical symptoms (probably) onset, infancy seizures |