Varaico: Literature-Extracted Genetic Variants

Gene:PROS1
Variant:p.K50E
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PROS1

NM_000313.4:p.K50E

Associated Papers

Recurrent ischemic strokes caused by hereditary protein S deficiency from a novel PROS1 mutation: a case report.

Huang MY et al.

Bmc Neurology, 2025

Population-Scale Studies of Protein S Abnormalities and Thrombosis.

Chaudhry SA et al.

Jama, 2025

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

Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Akhavanfard S et al.

Nature Communications, 2020

32371905 (PubMed )
Supplement: 41467_2020_16067_MOESM23_ESM.xlsx › Supplementary_Data_20

Systematic analysis of the intersection of disease mutations with protein modifications.

Simpson CM et al.

Bmc Medical Genomics, 2019

31345222 (PubMed )
Supplement: 12920_2019_543_MOESM6_ESM.xlsx › S5C
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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."