Varaico: Literature-Extracted Genetic Variants

Gene:SGCE
Variant:p.L275_V276Splc
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SGCE

NM_003919.3:p.L275_V276Splc

Associated Papers

Rare but Relevant? Assessing Variants in Dystonia-Linked Genes in Parkinson's Disease.

Lange LM et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2026

Rare but Relevant: Assessing Variants in Dystonia-linked Genes in Parkinson's Disease.

Lange LM et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

Loss-of-function mutations in SGCE found in Japanese patients with myoclonus-dystonia.

Azuma K et al.

Clinical Genetics, 2023

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