Varaico: Literature-Extracted Genetic Variants

Gene:F12
Variant:p.C73S
Back to variants list

F12

NM_000505.4:p.C73S

Associated Papers

Clinical and genetic spectrum of factor XII deficiency in the Han population of East China.

Xu F et al.

Orphanet Journal of Rare Diseases, 2024

Mechanism, Functions, and Diagnostic Relevance of FXII Activation by Foreign Surfaces.

Konrath S et al.

Hamostaseologie, 2021

[Analysis of phenotype and genotype in four Chinese pedigrees with inherited coagulation factor V deficiency.].

Huang DD et al.

Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2010

A novel mutation in a patient with congenital coagulation factor XII deficiency.

Feng Y et al.

Chinese Medical Journal, 2008

[Identification of two novel mutations of human blood coagulation factor V gene in a Chinese family with congenital factor V deficiency].

Zheng WD et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2006

[Identification of two novel factor XI non-sense mutation Trp228stop and Trp383stop in a Chinese pedigree of congenital factor XI deficiency].

Wu WM et al.

Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2003

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."