Varaico: Literature-Extracted Genetic Variants

Gene:LMAN1
Variant:p.R456*
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LMAN1

NM_005570.4:p.R456*

Associated Papers

A distinct common p.Gln317* mutation among causative LMAN1 genetic mutations of combined factor V and factor VIII deficiency in five Taiwanese families.

Lin HY et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2022

[Combined deficiency of factors V and VIII caused by a novel compound heterozygous mutation of gene Lman1].

Ge J et al.

Zhongguo Shi Yan Xue Ye Xue Za Zhi, 2010

Genotype-phenotype correlation in combined deficiency of factor V and factor VIII.

Zhang B et al.

Blood, 2008

Combined factor V and factor VIII deficiency in a Thai patient: a case report of genotype and phenotype characteristics.

Sirachainan N et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2005

Molecular analysis of the ERGIC-53 gene in 35 families with combined factor V-factor VIII deficiency.

Neerman-Arbez M et al.

Blood, 1999

[Management of cesarean section under replacement therapy with factor VIII concentrates in a pregnant case with congenital combined deficiency of factor V and factor VIII].

Ueno H et al.

[rinsho Ketsueki] the Japanese Journal of Clinical Hematology, 1991

[Case report of congenital deficiency of factor V and factor VIII].

Vujaklija-Stipanović K et al.

Bilten Za Hematologiju I Transfuziju, 1979

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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."