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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
ARPC5
Variant:
p.P63delFs
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ARPC5
NM_005717.4:p.P63delFs
hg38:chr1:183633108 TA>T
Frequencies & domains
Associated Papers
ARPC5 deficiency leads to severe early-onset systemic inflammation and mortality.
Sindram E et al.
Disease Models & Mechanisms,
2023
37382373 (PubMed
)
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