Varaico: Literature-Extracted Genetic Variants

Gene:GP1BB
Variant:p.R110fs
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GP1BB

NM_000407.5:p.R110fs

Associated Papers

GP1BB c.179C > T is the most frequent cause of monoallelic Bernard-Soulier syndrome in the Italian population after the Bolzano variant: a report of two new families.

Barozzi S et al.

Annals of Hematology, 2023

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