Home
Downloads
UCSC Genome Browser Track
Email Updates
Menu
Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
HRURF
Variant:
p.Q23*
Back to variants list
HRURF
NM_001394132.1:p.Q23*
hg38:chr8:22130642 G>A
Frequencies & domains
Associated Papers
Identification of a novel sporadic U2HR pathogenic variant in a patient with Marie Unna hereditary hypotrichosis.
Braun T et al.
Pediatric Dermatology,
0
37012647 (PubMed
)
Select a paper to view details