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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
POLD3
Variant:
p.L114L
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POLD3
NM_006591.3:p.L114L
hg38:chr11:74612960 G>A
Frequencies & domains
Associated Papers
Identification of 14 novel CTNS mutations and characterization of seven splice site mutations associated with cystinosis.
Kalatzis V et al.
Human Mutation,
2002
12442267 (PubMed
)
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