Varaico: Literature-Extracted Genetic Variants

Gene:SIL1
Variant:p.L456*
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SIL1

NM_022464.5:p.L456*

Associated Papers

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

Krieger M et al.

Brain : a Journal of Neurology, 2013

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

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

Takahata T et al.

Journal of Human Genetics, 2010

Novel SIL1 mutations and exclusion of functional candidate genes in Marinesco-Sjögren syndrome.

Anttonen AK et al.

European Journal of Human Genetics : Ejhg, 2008

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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."