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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SOX5

Variant:p.S100delFs

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SOX5

NM_178010.4:p.S100delFs

hg38:chr12:23563289 CT>C

Associated Papers

Clinical cases series and pathogenesis of Lamb-Shaffer syndrome in China.

Lian R et al.

Orphanet Journal of Rare Diseases, 2024

39075495 (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."