Varaico: Literature-Extracted Genetic Variants

Gene:FERMT3
Variant:p.R357*
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FERMT3

NM_031471.6:p.R357*

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

LAD-III, a Mild Phenotype Resulting From a Novel Variant of FERMT3 Gene: A Case Report.

Alasmari BG et al.

Cureus, 2023

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

Leucocyte adhesion deficiency-A multicentre national experience.

Wolach B et al.

European Journal of Clinical Investigation, 2019

A Novel Nonsense Mutation in FERMT3 Causes LAD-III in a Pakistani Family.

Shahid S et al.

Frontiers in Genetics, 2019

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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."