Varaico: Literature-Extracted Genetic Variants

Gene:F8
Variant:p.S2192Splc
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F8

NM_000132.4:p.S2192Splc

Associated Papers

Comprehensive Analysis of Hemophilia A (CAHEA): Towards Full Characterization of the F8 Gene Variants by Long-Read Sequencing.

Liu Y et al.

Thrombosis and Haemostasis, 2023

Characterisation and quantification of F8 transcripts of ten putative splice site mutations.

Liang Q et al.

Thrombosis and Haemostasis, 2015

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