Varaico: Literature-Extracted Genetic Variants

Gene:SIL1
Variant:p.L313fs
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SIL1

NM_022464.5:p.L313fs

Associated Papers

Single-cell sequencing reveals CD133+CD44--originating evolution and novel stemness related variants in human colorectal cancer.

Zhang X et al.

Ebiomedicine, 2022

35785618 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_2b

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

Chiesa R et al.

Neuropathology and Applied Neurobiology, 2020

Targeting the enhanced ER stress response in Marinesco-Sjögren syndrome.

Kashimada A et al.

Journal of the Neurological Sciences, 2018

A nationwide survey on Marinesco-Sjögren syndrome in Japan.

Goto M et al.

Orphanet Journal of Rare Diseases, 2014

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

Krieger M et al.

Brain : a Journal of Neurology, 2013

Novel mutations in the SIL1 gene in a Japanese pedigree with the Marinesco-Sjögren syndrome.

Takahata T et al.

Journal of Human Genetics, 2010

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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."