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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SMG1

Variant:p.G16_G18del0

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SMG1

NM_015092.5:p.G16_G18del0

hg38:chr16:18925987 TGCCGCCGCC>T

Associated Papers

Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders.

Jurgens JA et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

38585811 (PubMed )

Supplement: media-3.xlsx › Sheet1

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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."