Varaico: Literature-Extracted Genetic Variants

Gene:SIL1
Variant:p.Q414*
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SIL1

NM_022464.5:p.Q414*

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 SIL1 mutations in consanguineous Pakistani families mapping to chromosomes 5q31.

Riazuddin SA et al.

Molecular Vision, 2009

Molecular characteristics of inherited congenital cataracts.

Huang B et al.

European Journal of Medical Genetics, 0

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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."