Varaico: Literature-Extracted Genetic Variants

Gene:F2
Variant:p.M1V
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F2

NM_000506.5:p.M1V

Associated Papers

Extensive genetic screening of Iranian Factor FVII-deficient individuals unraveled several novel mutations and postulated founder effects in some cases.

Ravanbod S et al.

Research and Practice in Thrombosis and Haemostasis, 2023

Understanding the role of OXPHOS dysfunction in the pathogenesis of ECHS1 deficiency.

Burgin HJ et al.

Febs Letters, 2020

Pre-S/Surface and Core Promoter/Precore Mutations in Chronic Hepatitis B Patients with Severe Acute Exacerbation.

Chen YH et al.

Digestive Diseases and Sciences, 2019

Long-term evolution of eight Spanish patients with CDG type Ia: typical and atypical manifestations.

Pérez-Dueñas B et al.

European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2009

Clinical pharmacology and pharmacogenetics of thiopurines.

Sahasranaman S et al.

European Journal of Clinical Pharmacology, 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."