Varaico: Literature-Extracted Genetic Variants

Gene:F7
Variant:p.R353P
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F7

NM_019616.4:p.R353P

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

Expanded carrier screening and preimplantation genetic diagnosis in a couple who delivered a baby affected with congenital factor VII deficiency.

He WB et al.

Bmc Medical Genetics, 2018

[Two novel mutations in one pedigree with hereditary Factor VII deficiency].

Xing ZF et al.

Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2011

Severe factor VII deficiency caused by a novel point mutation (Arg353Pro) combined with a rare Cys22Arg mutation.

Zhidong W et al.

Thrombosis and Haemostasis, 2007

[Factor VII deficiency].

Kändler H et al.

Padiatrie Und Grenzgebiete, 1990

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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."