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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
ANGPT1
Variant:
p.L178P
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ANGPT1
NM_001146.5:p.L178P
hg38:chr8:107336192 A>G
Frequencies & domains
Associated Papers
Hereditary angioedema cosegregating with a novel kininogen 1 gene mutation changing the N-terminal cleavage site of bradykinin.
Bork K et al.
Allergy,
2019
31087670 (PubMed
)
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