Associated Papers
Rare inherited coagulation and fibrinolytic defects that challenge diagnostic laboratories.
Mathews N et al.
International Journal of Laboratory Hematology, 2023
A distinct common p.Gln317* mutation among causative LMAN1 genetic mutations of combined factor V and factor VIII deficiency in five Taiwanese families.
Lin HY et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2022
Added Value of Clinical Sequencing: WGS-Based Profiling of Pharmacogenes.
Caspar SM et al.
International Journal of Molecular Sciences, 2020
32225115 (PubMed )
Supplement: ijms-21-02308-s001.zip › Caspar_et_al_Supplementary_Table_S1.xlsx › gnomAD_Exomes_LOF
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