Varaico: Literature-Extracted Genetic Variants

Gene:PROS1
Variant:p.N498Splc
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PROS1

NM_000313.4:p.N498Splc

Associated Papers

The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.

Stefanucci L et al.

Blood, 2023

37647632 (PubMed )
Supplement: BLOOD_BLD-2023-020118-mmc3.xlsx › ST3.5

Screening for thrombophilia in patients with thromboangitis obliterans using whole-exome sequencing.

Chen F et al.

Thrombosis Research, 2023

[Clinical manifestations and gene analysis of 18 cases of hereditary protein S deficiency].

Zhang DL et al.

Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2022

Molecular basis of protein S deficiency in China.

Tang L et al.

American Journal of Hematology, 2013

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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."