Varaico: Literature-Extracted Genetic Variants

Gene:LMAN1
Variant:p.P274P
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LMAN1

NM_005570.4:p.P274P

Associated Papers

Combined Factor V and VIII Deficiency with LMAN1 Mutation: A Report of 3 Saudi Siblings.

Alsheikh S et al.

The American Journal of Case Reports, 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

MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.

Mort M et al.

Genome Biology, 2014

24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf

Combined FV and FVIII deficiency.

Spreafico M et al.

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

[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."