Varaico: Literature-Extracted Genetic Variants

Gene:SIL1
Variant:p.E348insFs
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SIL1

NM_022464.5:p.E348insFs

Associated Papers

Marinesco-Sjögren Syndrome: A Novel SIL1 Variant with In Silico Analysis and Review of the Literature.

Aslan ES et al.

Life (basel, Switzerland), 2025

Genotype-phenotype correlations in ocular manifestations of Marinesco-Sjögren syndrome: Case report and literature review.

Bayram N et al.

European Journal of Ophthalmology, 2022

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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."