Varaico: Literature-Extracted Genetic Variants

Gene:GALE
Variant:p.F77insFs
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GALE

NM_001008216.2:p.F77insFs

Associated Papers

GALE variants associated with syndromic manifestations, macrothrombocytopenia, bleeding, and platelet dysfunction.

Marín-Quílez A et al.

Platelets, 2023

Novel variants in GALE cause syndromic macrothrombocytopenia by disrupting glycosylation and thrombopoiesis.

Marín-Quílez A et al.

Blood, 2023

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