Varaico: Literature-Extracted Genetic Variants

Gene:LMAN1
Variant:p.R12insFs
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LMAN1

NM_005570.4:p.R12insFs

Associated Papers

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

A synonymous mutation in LMAN1 creates an ectopic splice donor site and causes combined deficiency of FV and FVIII.

Zhu M et al.

Journal of Thrombosis and Haemostasis : Jth, 2012

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

Zhang B et al.

Blood, 2008

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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."