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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
KLK8
Variant:
p.G24Splc
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KLK8
NM_007196.4:p.G24Splc
hg38:chr19:51000710 T>A
Frequencies & domains
Associated Papers
A human-specific mutation leads to the origin of a novel splice form of neuropsin (KLK8), a gene involved in learning and memory.
Lu ZX et al.
Human Mutation,
2007
17487847 (PubMed
)
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