Varaico: Literature-Extracted Genetic Variants

Gene:F7
Variant:p.F328S
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F7

NM_000131.4:p.F328S

Associated Papers

A novel compound heterozygous variant linked to hematuria in a family with hereditary factor VII deficiency.

Hu YN et al.

The Journal of Gene Medicine, 2022

Identification of genetic defects underlying FVII deficiency in 10 patients belonging to eight unrelated families of the North provinces from Tunisia.

Elmahmoudi H et al.

Diagnostic Pathology, 2012

Factor VII deficiency and the FVII mutation database.

McVey JH et al.

Human Mutation, 2001

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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."