Varaico: Literature-Extracted Genetic Variants

Gene:GALE
Variant:p.V128M
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GALE

NM_001008216.2:p.V128M

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

Molecular dynamics, residue network analysis, and cross-correlation matrix to characterize the deleterious missense mutations in GALE causing galactosemia III.

Kumar SU et al.

Cell Biochemistry and Biophysics, 2021

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."