Varaico: Literature-Extracted Genetic Variants

Gene:F9
Variant:p.C69Y
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F9

NM_000133.4:p.C69Y

Associated Papers

Clinical analysis and quality of life survey of hemophilia B patients in the central and western regions of China.

Wang W et al.

Frontiers in Pediatrics, 2024

Molecular analysis of 76 Chinese hemophilia B pedigrees and the identification of 10 novel mutations.

Huang L et al.

Molecular Genetics & Genomic Medicine, 2020

Splicing dysregulation contributes to the pathogenicity of several F9 exonic point variants.

Katneni UK et al.

Molecular Genetics & Genomic Medicine, 2019

31257730 (PubMed )
Supplement: MGG3-7-e840-s002.xls › F9_Splicing_Data

The characteristics and spectrum of F9 mutations in Chinese sporadic haemophilia B pedigrees.

Lu Y et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2019

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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."