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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
POLM
Variant:
p.V58_L59insG
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POLM
NM_013284.4:p.V58_L59insG
hg38:chr7:44082267 C>CNNN
Frequencies & domains
Associated Papers
Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus.
Crow YJ et al.
Nature Genetics,
2006
16845398 (PubMed
)
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