Varaico: Literature-Extracted Genetic Variants

Gene:LMAN1
Variant:p.E305insFs
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LMAN1

NM_005570.4:p.E305insFs

Associated Papers

Clinical, Laboratory, Molecular, and Reproductive Aspects of Combined Deficiency of Factors V and VIII.

Yakovleva E et al.

Seminars in Thrombosis and Hemostasis, 2025

Rare inherited coagulation and fibrinolytic defects that challenge diagnostic laboratories.

Mathews N et al.

International Journal of Laboratory Hematology, 2023

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

Familial Multiple Coagulation Factor Deficiencies (FMCFDs) in a Large Cohort of Patients-A Single-Center Experience in Genetic Diagnosis.

Preisler B et al.

Journal of Clinical Medicine, 2021

Low factor V level ameliorates bleeding diathesis in patients with combined deficiency of factor V and factor VIII.

Shao Y et al.

Blood, 2019

Combined deficiency of coagulation factors V and VIII: an update.

Zheng C et al.

Seminars in Thrombosis and Hemostasis, 2013

Successful percutaneous coronary intervention in a patient with combined deficiency of FV and FVIII due to novel compound heterozygous mutations in LMAN1.

Patel AJ et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2013

[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

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."