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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SIL1

Variant:p.R317fs

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SIL1

NM_022464.5:p.R317fs

hg38:chr5:138951251 CCT>N

Associated Papers

Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia.

Menden B et al.

Nature Communications, 2026

41690933 (PubMed )

Supplement: 41467_2026_69337_MOESM1_ESM.pdf

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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."