Varaico: Literature-Extracted Genetic Variants

Gene:FERMT3
Variant:p.S40L
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FERMT3

NM_031471.6:p.S40L

Associated Papers

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

Roos D et al.

Blood Cells, Molecules & Diseases, 2023

Case Report: A Case of Leukocyte Adhesion Deficiency, Type III Presenting With Impaired Platelet Function, Lymphocytosis and Granulocytosis.

Yahya AM et al.

Frontiers in Pediatrics, 2021

RasGRP2 Structure, Function and Genetic Variants in Platelet Pathophysiology.

Canault M et al.

International Journal of Molecular Sciences, 2020

Novel variants in FERMT3 and RASGRP2-Genetic linkage in Glanzmann-like bleeding disorders.

Manukjan G et al.

Pediatric Blood & Cancer, 2020

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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."