Varaico: Literature-Extracted Genetic Variants

Gene:FERMT3
Variant:p.W229*
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FERMT3

NM_031471.6:p.W229*

Associated Papers

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

Roos D et al.

Blood Cells, Molecules & Diseases, 2023

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

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 type III: clinical features and treatment with stem cell transplantation.

Stepensky PY et al.

Journal of Pediatric Hematology/oncology, 2015

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

Novel integrin-dependent platelet malfunction in siblings with leukocyte adhesion deficiency-III (LAD-III) caused by a point mutation in FERMT3.

Jurk K et al.

Thrombosis and Haemostasis, 2010

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

Kuijpers TW et al.

Blood, 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."