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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
VCP
Variant:
p.N129D
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VCP
NM_007126.5:p.N129D
hg38:chr9:35066735 T>C
Frequencies & domains
Associated Papers
ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase function.
de Majo M et al.
Neurobiology of Aging,
2018
30033073 (PubMed
)
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