Varaico: Literature-Extracted Genetic Variants

Gene:SIL1
Variant:p.G372delFs
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SIL1

NM_022464.5:p.G372delFs

Associated Papers

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

Chiesa R et al.

Neuropathology and Applied Neurobiology, 2020

Phenotype-genotype correlations in patients with Marinesco-Sjögren syndrome.

Ezgu F et al.

Clinical Genetics, 2014

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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."