Home
Downloads
UCSC Genome Browser Track
Email Updates
Menu
Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
RFC3
Variant:
p.S2N
Back to variants list
RFC3
NM_002915.4:p.S2N
hg38:chr13:33818183 G>A
Frequencies & domains
Associated Papers
Whole Exome Sequencing Identified a Novel Biallelic SMARCAL1 Mutation in the Extremely Rare Disease SIOD.
Jin J et al.
Frontiers in Genetics,
2019
31275356 (PubMed
)
Select a paper to view details