Links from Orgtrack
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Deficiency of aromatic-L-amino-acid decarboxylase | |
| | | Single nucleotide variant (missense variant) | Deficiency of aromatic-L-amino-acid decarboxylase | |
| | | Single nucleotide variant (missense variant) | Deficiency of aromatic-L-amino-acid decarboxylase | |
| | | Single nucleotide variant (missense variant) | Deficiency of aromatic-L-amino-acid decarboxylase | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Transitory neonatal diabetes mellitus +2 more | GConflicting classifications of pathogenicity |
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