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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
STEAP3
Variant:
p.M202I
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STEAP3
NM_182915.3:p.M202I
hg38:chr2:119247762 G>C
Frequencies & domains
Associated Papers
Mutation spectrum in Chinese patients affected by congenital sideroblastic anemia and a search for a genotype-phenotype relationship.
Liu G et al.
Haematologica,
2013
24323989 (PubMed
)
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