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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
CPS1
Variant:
p.P384S
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CPS1
NM_001875.5:p.P384S
hg38:chr2:210592942 C>T
Frequencies & domains
Associated Papers
Prenatal diagnosis of carbamoyl phosphate synthetase I deficiency by identification of a missense mutation in CPS1.
Finckh U et al.
Human Mutation,
1998
9711878 (PubMed
)
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