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
GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis.
Megy K et al.
Journal of Thrombosis and Haemostasis : Jth, 2021
34355501 (PubMed )
Supplement: JTH-19-2612-s004.xlsx › ALL
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
Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders.
Bastida JM et al.
Haematologica, 2018
ITGA2B and ITGB3 gene mutations associated with Glanzmann thrombasthenia.
Nurden AT et al.
Platelets, 2018
AlphaIIbbeta3 integrin: new allelic variants in Glanzmann thrombasthenia, effects on ITGA2B and ITGB3 mRNA splicing, expression, and structure-function.
Jallu V et al.
Human Mutation, 2010
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