Varaico: Literature-Extracted Genetic Variants

Gene:SERPINC1
Variant:p.R78Q
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SERPINC1

NM_000488.4:p.R78Q

Associated Papers

Hidden antithrombin defects: time to change and improve our thrombophilia diagnostic approach.

Corral J et al.

Journal of Thrombosis and Haemostasis : Jth, 2025

Clinical and Molecular Characterization of Nine Novel Antithrombin Mutations.

Kállai J et al.

International Journal of Molecular Sciences, 2024

Molecular and clinical characterization of transient antithrombin deficiency: A new concept in congenital thrombophilia.

Bravo-Pérez C et al.

American Journal of Hematology, 2022

Rare genetic variability in human drug target genes modulates drug response and can guide precision medicine.

Zhou Y et al.

Science Advances, 2021

34516913 (PubMed )
Supplement: sciadv.abi6856_tables_s1_to_s8.zip › sciadv.abi6856_Table_S4.xlsx › Sheet1
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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."