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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
PCNA
Variant:
p.V48A
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PCNA
NM_182649.2:p.V48A
hg38:chr20:5119656 A>G
Frequencies & domains
Associated Papers
The phenotypic and genetic spectrum of patients with heterozygous mutations in cyclin M2 (CNNM2).
Franken GAC et al.
Human Mutation,
2021
33600043 (PubMed
)
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