Varaico: Literature-Extracted Genetic Variants

Gene:SELENOH
Variant:p.E80V
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SELENOH

NM_170746.4:p.E80V

Associated Papers

Human Genetic Disorders Resulting in Systemic Selenoprotein Deficiency.

Schoenmakers E et al.

International Journal of Molecular Sciences, 2021

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

Schoenmakers E et al.

Antioxidants & Redox Signaling, 2020

NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development.

Baetens D et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

27490115 (PubMed )
Supplement: gim2016118x1.zip › Table_S13-S17.xlsx › Table_S15
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