Varaico: Literature-Extracted Genetic Variants

Gene:SLC18A2
Variant:p.Q61*
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SLC18A2

NM_003054.6:p.Q61*

Associated Papers

SLC18A2 associated infantile-onset- parkinsonism-dystonia 2: A novel genotype.

Janardhanan A et al.

Parkinsonism & Related Disorders, 2025

A gene pathogenicity tool "GenePy" identifies missed biallelic diagnoses in the 100,000 Genomes Project.

Seaby EG et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024

38245859 (PubMed )
Supplement: NIHMS2042813-supplement-Supplemental_Results.xlsx › Top_priority

Novel SLC18A2 Variant in Infantile Dystonia-Parkinsonism Type 2.

Kaasalainen S et al.

Case Reports in Neurological Medicine, 2024

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