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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
GAS2L2
Variant:
p.P319H
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GAS2L2
NM_139285.4:p.P319H
hg38:chr17:35747145 G>T
Frequencies & domains
Associated Papers
Gain-of-function KCNJ6 Mutation in a Severe Hyperkinetic Movement Disorder Phenotype.
Horvath GA et al.
Neuroscience,
2018
29852244 (PubMed
)
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