Varaico: Literature-Extracted Genetic Variants

Gene:ITGB1
Variant:p.Q40*
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ITGB1

NM_002211.4:p.Q40*

Associated Papers

Impact of thrombocytopenia-associated c.-118C>T and c.-140C>G ANKRD26 5'UTR variants in three-generational pedigree.

Trizuljak J et al.

Platelets, 2024

39212265 (PubMed )
Supplement: supplement_1.pdf

Clinical significance of mutational variants in beta and alpha genes in patients with hemoglobinopathies from two large Greek centers: a complex interplay between genotype and phenotype.

Diamantidis MD et al.

Journal of Molecular Medicine (berlin, Germany), 2023

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