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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
FLI1
Variant:
p.R320R
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FLI1
NM_002017.5:p.R320R
hg38:chr11:128810589 C>T
Frequencies & domains
Associated Papers
Paris-Trousseau thrombocytopenia is phenocopied by the autosomal recessive inheritance of a DNA-binding domain mutation in FLI1.
Stevenson WS et al.
Blood,
2015
26316623 (PubMed
)
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