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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
UCKL1
Variant:
p.T93M
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UCKL1
NM_017859.4:p.T93M
hg38:chr20:63946479 G>A
Frequencies & domains
Associated Papers
Mutations in RELT cause autosomal recessive amelogenesis imperfecta.
Kim JW et al.
Clinical Genetics,
2019
30506946 (PubMed
)
Supplement: CGE-95-375-s001.pdf
Select a paper to view details