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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
ATP12A
Variant:
p.G277S
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ATP12A
NM_001676.7:p.G277S
hg38:chr13:24691011 G>A
Frequencies & domains
Associated Papers
Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism.
de Carvalho Aguiar P et al.
Neuron,
2004
15260953 (PubMed
)
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