Varaico: Literature-Extracted Genetic Variants

Gene:FERMT3
Variant:p.R509*
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FERMT3

NM_031471.6:p.R509*

Associated Papers

Clinical and Osteopetrosis-Like Radiological Findings in Patients with Leukocyte Adhesion Deficiency Type III.

Kahraman AB et al.

Journal of Clinical Immunology, 2023

A Novel Deletion in FERMT3 Causes LAD-III in a Turkish Family.

Köker N et al.

Journal of Clinical Immunology, 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

Leukocyte adhesion defect: Where do we stand circa 2019?

Das J et al.

Genes & Diseases, 2020

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

Shahid S et al.

Frontiers in Genetics, 2019

Hematopoietic stem cell transplantation corrects osteopetrosis in a child carrying a novel homozygous mutation in the FERMT3 gene.

Palagano E et al.

Bone, 2017

Leukocyte Adhesion Deficiency III: Report of Two Siblings.

Aygun D et al.

Pediatrics and Neonatology, 2017

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

van de Vijver E et al.

Blood Cells, Molecules & Diseases, 2012

A novel leukocyte adhesion deficiency III variant: kindlin-3 deficiency results in integrin- and nonintegrin-related defects in different steps of leukocyte adhesion.

Robert P et al.

Journal of Immunology (baltimore, Md. : 1950), 2011

LAD-1/variant syndrome is caused by mutations in FERMT3.

Kuijpers TW et al.

Blood, 2009

Leukocyte adhesion deficiency-III is caused by mutations in KINDLIN3 affecting integrin activation.

Svensson L et al.

Nature Medicine, 2009

Leukocyte adhesion deficiency syndrome: a controversy solved.

Abram CL et al.

Immunology and Cell Biology, 0

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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."