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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
GFI1B
Variant:
p.K184insFs
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GFI1B
NM_001135031.2:p.K184insFs
hg38:chr9:132989782 A>AG
Frequencies & domains
Associated Papers
Recessive grey platelet-like syndrome with unaffected erythropoiesis in the absence of the splice isoform GFI1B-p37.
Schulze H et al.
Haematologica,
2017
28550182 (PubMed
)
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