Varaico: Literature-Extracted Genetic Variants

Gene:SEPSECS
Variant:p.Y334S
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SEPSECS

NM_016955.4:p.Y334S

Associated Papers

Analysis of the Clinical Features and Imaging Findings of Pontocerebellar Hypoplasia Type 2D Caused by Mutations in SEPSECS Gene.

Zhao R et al.

Cerebellum (london, England), 2023

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

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