Varaico: Literature-Extracted Genetic Variants

Gene:SIL1
Variant:p.F171delFs
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SIL1

NM_022464.5:p.F171delFs

Associated Papers

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

Chiesa R et al.

Neuropathology and Applied Neurobiology, 2020

SIL1-related Marinesco-Sjoegren syndrome (MSS) with associated motor neuronopathy and bradykinetic movement disorder.

Byrne S et al.

Neuromuscular Disorders : Nmd, 2015

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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."