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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
MRE11
Variant:
p.F106fs
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MRE11
NM_005591.4:p.F106fs
hg38:chr11:94479760 AAA>N
Frequencies & domains
Associated Papers
Three new cases of ataxia-telangiectasia-like disorder: No impairment of the ATM pathway, but S-phase checkpoint defect.
Fiévet A et al.
Human Mutation,
2019
31033087 (PubMed
)
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