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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SIL1

Variant:p.Q426_E428delFs

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SIL1

NM_022464.5:p.Q426_E428delFs

hg38:chr5:138947220 TCAGCCTG>T

Associated Papers

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

Krieger M et al.

Brain : a Journal of Neurology, 2013

24176978 (PubMed )

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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."