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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
FANCI
Variant:
p.L499L
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FANCI
NM_001113378.2:p.L499L
hg38:chr15:89281285 G>T
Frequencies & domains
Associated Papers
Pathogenic mutations identified by a multimodality approach in 117 Japanese Fanconi anemia patients.
Mori M et al.
Haematologica,
2019
30792206 (PubMed
)
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