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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
INPP5J
Variant:
p.E197*
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INPP5J
NM_001284285.2:p.E197*
hg38:chr22:31125328 G>T
Frequencies & domains
Associated Papers
A germline HLTF mutation in familial MDS induces DNA damage accumulation through impaired PCNA polyubiquitination.
Takaoka K et al.
Leukemia,
2019
30696947 (PubMed
)
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