Varaico: Literature-Extracted Genetic Variants

Gene:LMAN1
Variant:p.R202*
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LMAN1

NM_005570.4:p.R202*

Associated Papers

Integrating Next-Generation Sequencing Into Routine Molecular Diagnosis of Inherited Coagulation Factor Deficiencies: Real-World Data From Spanish Patients.

Borràs N et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2025

40577417 (PubMed )
Supplement: HAE-31-734-s001.pdf

A Novel Variant of the LMAN1 Gene in Combined Factor V and Factor VIII Deficiency in a Saudi Female Child: A Case Report.

Alasmari BG et al.

Cureus, 2024

The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.

Stefanucci L et al.

Blood, 2023

37647632 (PubMed )
Supplement: BLOOD_BLD-2023-020118-mmc3.xlsx › ST3.4

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

Zheng C et al.

Seminars in Thrombosis and Hemostasis, 2013

Two new mutations at ERGIC-53 gene in a Turkish family.

Torun D et al.

Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/hemostasis, 2011

Molecular analysis in two Tunisian families with combined factor V and factor VIII deficiency.

Abdallah HE et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2010

Combined FV and FVIII deficiency.

Spreafico M et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2008

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

Zhang B et al.

Blood, 2008

Mutations in the MCFD2 gene are predominant among patients with hereditary combined FV and FVIII deficiency (F5F8D) in India.

Jayandharan G et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2007

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

Neerman-Arbez M et al.

Blood, 1999

ERGIC-53 gene structure and mutation analysis in 19 combined factors V and VIII deficiency families.

Nichols WC 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."