Varaico: Literature-Extracted Genetic Variants

Gene:SIL1
Variant:p.G312R
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SIL1

NM_022464.5:p.G312R

Associated Papers

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

Chiesa R et al.

Neuropathology and Applied Neurobiology, 2020

Identification of Cellular Pathogenicity Markers for SIL1 Mutations Linked to Marinesco-Sjögren Syndrome.

Gatz C et al.

Frontiers in Neurology, 2019

In-depth phenotyping of lymphoblastoid cells suggests selective cellular vulnerability in Marinesco-Sjögren syndrome.

Kollipara L et al.

Oncotarget, 2017

SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome.

Krieger M et al.

Brain : a Journal of Neurology, 2013

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."