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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
POLG
Variant:
p.P325L
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POLG
NM_002693.3:p.P325L
hg38:chr15:89328992 G>A
Frequencies & domains
Associated Papers
High-Throughput Sequencing Reveals the Loss-of-Function Mutations in GALT Cause Recessive Classical Galactosemia.
Li L et al.
Frontiers in Pediatrics,
2020
32903656 (PubMed
)
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