Varaico: Literature-Extracted Genetic Variants

Gene:F8
Variant:p.N982fs
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F8

NM_000132.4:p.N982fs

Associated Papers

Development of a common platform for the noninvasive prenatal diagnosis of X-linked diseases.

Jang SS et al.

Prenatal Diagnosis, 2018

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."