Varaico: Literature-Extracted Genetic Variants

Gene:SIL1
Variant:p.G312E
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SIL1

NM_022464.5:p.G312E

Associated Papers

Marinesco-Sjögren Syndrome: A Novel SIL1 Variant with In Silico Analysis and Review of the Literature.

Aslan ES et al.

Life (basel, Switzerland), 2025

Review: Protein misfolding diseases - the rare case of Marinesco-Sjögren syndrome.

Chiesa R et al.

Neuropathology and Applied Neurobiology, 2020

Marinesco-Sjögren syndrome due to SIL1 mutations with a comment on the clinical phenotype.

Horvers M et al.

European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2013

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