Varaico: Literature-Extracted Genetic Variants

Gene:FERMT3
Variant:p.R557Splc
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FERMT3

NM_031471.6:p.R557Splc

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 › ST3.3

Hematologically important mutations: Leukocyte adhesion deficiency (second update).

Roos D et al.

Blood Cells, Molecules & Diseases, 2023

Leukocyte adhesion defect: Where do we stand circa 2019?

Das J et al.

Genes & Diseases, 2020

Hematologically important mutations: leukocyte adhesion deficiency (first update).

van de Vijver E et al.

Blood Cells, Molecules & Diseases, 2012

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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."