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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
FKBP10
Variant:
p.E427G
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FKBP10
NM_021939.4:p.E427G
hg38:chr17:41820970 A>G
Frequencies & domains
Associated Papers
Bruck syndrome 2 variant lacking congenital contractures and involving a novel compound heterozygous PLOD2 mutation.
Mumm S et al.
Bone,
2020
31472299 (PubMed
)
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