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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
BARD1
Variant:
p.D122Splc
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BARD1
NM_000465.4:p.D122Splc
hg38:chr2:214781516 G>A
Frequencies & domains
Associated Papers
Cancer predisposing missense and protein truncating BARD1 mutations in non-BRCA1 or BRCA2 breast cancer families.
De Brakeleer S et al.
Human Mutation,
2010
20077502 (PubMed
)
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