Varaico: Literature-Extracted Genetic Variants

Gene:F8
Variant:p.N1460fs
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F8

NM_000132.4:p.N1460fs

Associated Papers

Characteristics of Opsoclonus-Myoclonus Syndrome in Patients of the Largest Pediatric Hospital in Latin America.

Zeny MS et al.

Pediatric Neurology, 2024

Resolving Differential Diagnostic Problems in von Willebrand Disease, in Fibrinogen Disorders, in Prekallikrein Deficiency and in Hereditary Hemorrhagic Telangiectasia by Next-Generation Sequencing.

Gindele R et al.

Life (basel, Switzerland), 2021

33807613 (PubMed )
Supplement: life-11-00202-s001.pdf

Molecular diagnosis of haemophilia A at Centro Hospitalar de Coimbra in Portugal: study of 103 families--15 new mutations.

Silva Pinto C et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2012

Influence of the type of F8 gene mutation on inhibitor development in a single centre cohort of severe haemophilia A patients.

Gouw SC et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2011

21070499 (PubMed )
Supplement: supplement_1.doc
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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."