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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
KDM5C
Variant:
p.A387D
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KDM5C
NM_001282622.3:p.A387D
hg38:chrX:53211866 G>T
Frequencies & domains
Associated Papers
Mutations in the intellectual disability gene KDM5C reduce protein stability and demethylase activity.
Brookes E et al.
Human Molecular Genetics,
2015
25666439 (PubMed
)
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