Varaico: Literature-Extracted Genetic Variants

Gene:NCL
Variant:p.M1V
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NCL

NM_005381.3:p.M1V

Associated Papers

Human Disorders Affecting the Selenocysteine Incorporation Pathway Cause Systemic Selenoprotein Deficiency.

Schoenmakers E et al.

Antioxidants & Redox Signaling, 2020

The genetics of Canadian type 3 von Willebrand disease: further evidence for co-dominant inheritance of mutant alleles.

Bowman M et al.

Journal of Thrombosis and Haemostasis : Jth, 2013

RPS19 mutations in patients with Diamond-Blackfan anemia.

Campagnoli MF et al.

Human Mutation, 2008

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