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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
ACACA
Variant:
p.R28R
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ACACA
NM_198834.3:p.R28R
hg38:chr17:37339805 T>C
Frequencies & domains
Associated Papers
Novel mutations in Sanfilippo A syndrome: implications for enzyme function.
Weber B et al.
Human Molecular Genetics,
1997
9285796 (PubMed
)
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