Home
Downloads
UCSC Genome Browser Track
Email Updates
Menu
Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
PCDH19
Variant:
p.N447H
Back to variants list
PCDH19
NM_001184880.2:p.N447H
hg38:chrX:100407259 T>G
Frequencies & domains
Associated Papers
A mutation update for the PCDH19 gene causing early-onset epilepsy in females with an unusual expression pattern.
Niazi R et al.
Human Mutation,
2019
30582250 (PubMed
)
Select a paper to view details