Varaico: Literature-Extracted Genetic Variants

Gene:FERMT3
Variant:p.G44R
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FERMT3

NM_031471.6:p.G44R

Associated Papers

Inactivation of kindlin-3 increases human melanoma aggressiveness through the collagen-activated tyrosine kinase receptor DDR1.

Reger De Moura C et al.

Oncogene, 2024

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

Roos D et al.

Blood Cells, Molecules & Diseases, 2023

Exome sequencing and analysis of 454,787 UK Biobank participants.

Backman JD et al.

Nature, 2021

34662886 (PubMed )
Supplement: 41586_2021_4103_MOESM4_ESM.xlsx › ST6

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

The Co-existence of ADHD With Autism in Saudi Children: An Analysis Using Next-Generation DNA Sequencing.

Bogari NM et al.

Frontiers in Genetics, 2020

A Novel Mutation of MAGEL2 in a Patient with Schaaf-Yang Syndrome and Hypopituitarism.

D Hidalgo-Santos A et al.

International Journal of Endocrinology and Metabolism, 2018

30323850 (PubMed )
Supplement: ijem-16-03-67329-s001.pdf

A rare coding allele in IFIH1 is protective for psoriatic arthritis.

Budu-Aggrey A et al.

Annals of the Rheumatic Diseases, 2017

28501801 (PubMed )
Supplement: annrheumdis-2016-210592supp001.pdf

Diagnostics of primary immunodeficiency diseases: a sequencing capture approach.

Moens LN et al.

Plos One, 2014

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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."