Varaico: Literature-Extracted Genetic Variants

Gene:GFI1B
Variant:p.Q216_E217Splc
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GFI1B

NM_001377304.1:p.Q216_E217Splc

Associated Papers

Exome sequencing in 116 patients with inherited thrombocytopenia that remained of unknown origin after systematic phenotype-driven diagnostic workup.

Marconi C et al.

Haematologica, 2023

36519321 (PubMed )
Supplement: 2022_280993_MARCONI_TABS6_SUPPL.xlsx › Foglio1

Dysregulation of oncogenic factors by GFI1B p32: investigation of a novel GFI1B germline mutation.

Faleschini M et al.

Haematologica, 2022

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