Varaico: Literature-Extracted Genetic Variants

Gene:SERPINC1
Variant:p.N87D
Back to variants list

SERPINC1

NM_000488.4:p.N87D

Associated Papers

De novo mutations in antithrombin deficiency: high frequency and heterogeneous mechanisms.

Garrido-Rodríguez P et al.

Haematologica, 2026

[Phenotypic and genetic analysis of a pedigree with inherited antithrombin deficiency].

Xu QY et al.

Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2020

Two Novel Mutations Cause Hereditary Antithrombin Deficiency in a Chinese Family.

Zhang H et al.

Acta Haematologica, 2020

Gene analysis of inherited antithrombin deficiency and functional analysis of abnormal antithrombin protein (N87D).

Kamijima S et al.

International Journal of Hematology, 2018

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."