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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SIL1

Variant:p.D338G

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SIL1

NM_022464.5:p.D338G

hg38:chr5:138951187 T>C

Associated Papers

The expanding clinical and genetic spectrum of DYNC1H1-related disorders.

Möller B et al.

Brain : a Journal of Neurology, 2025

38848546 (PubMed )

Supplement: awae183_supplementary_data.zip › brain-2023-02737-File010.xlsx › Tabelle1

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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."