Varaico: Literature-Extracted Genetic Variants

Gene:FERMT3
Variant:p.Q595P
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FERMT3

NM_031471.6:p.Q595P

Associated Papers

Hydrophobicity-Driven Disruption Mechanism in Kindlin-3 Induced by Leukocyte Adhesion Deficiency Mutation.

Luo X et al.

Acs Omega, 2025

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

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

Palagano E et al.

Bone, 2017

Adaptive immune defects in a patient with leukocyte adhesion deficiency type III with a novel mutation in FERMT3.

Suratannon N et al.

Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology, 2016

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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."