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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
AMBRA1
Variant:
p.L274F
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AMBRA1
NM_017749.3:p.L274F
hg38:chr11:46542927 G>A
Frequencies & domains
Associated Papers
Rare mutations in the autophagy-regulating gene AMBRA1 contribute to human neural tube defects.
Ye J et al.
Human Mutation,
2020
32333458 (PubMed
)
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