Associated Papers
VarMeter2: An enhanced structure-based method for predicting pathogenic missense variants through Mahalanobis distance.
Ohno S et al.
Computational and Structural Biotechnology Journal, 2025
40160862 (PubMed )
Supplement: mmc2.xlsx › Sheet1
Glanzmann Thrombasthenia in a Newborn Due to a Rare Homozygous Missense Mutation.
Faraz S et al.
Cureus, 2024
Specifications of the variant curation guidelines for ITGA2B/ITGB3: ClinGen Platelet Disorder Variant Curation Panel.
Ross JE et al.
Blood Advances, 2021
Two homozygous missense mutations in ITGB3 gene as a cause of Glanzmann Thrombasthenia in four consanguineous Pakistani pedigrees.
Ali T et al.
International Journal of Laboratory Hematology, 2020
ITGB (Integrin subunit beta) 3 mutation involved in pulmonary hemorrhage and osteopetrosis.
Sendon C et al.
Respiratory Medicine Case Reports, 2019
ITGA2B and ITGB3 gene mutations associated with Glanzmann thrombasthenia.
Nurden AT et al.
Platelets, 2018
Glanzmann thrombasthenia: an update.
Franchini M et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2010
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