Varaico: Literature-Extracted Genetic Variants

Gene:PROS1
Variant:p.R41H
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PROS1

NM_000313.4:p.R41H

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

Genome resequencing and bioinformatic analysis of SNP containing candidate genes in the autoimmune vitiligo Smyth line chicken model.

Jang HM et al.

Bmc Genomics, 2014

25151476 (PubMed )
Supplement: 12864_2013_6386_MOESM1_ESM.xlsx › SNPs_in_CDS

Genotype and laboratory and clinical phenotypes of protein s deficiency.

Duebgen S et al.

American Journal of Clinical Pathology, 2012

Protein S inherited qualitative deficiency: novel mutations and phenotypic influence.

Alhenc-Gelas M et al.

Journal of Thrombosis and Haemostasis : Jth, 2010

Glycine 122 is essential for cooperativity and binding of Mg2+ to porcine fructose-1,6-bisphosphatase.

Zhang R et al.

The Journal of Biological Chemistry, 1995

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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."