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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SOX11

Variant:p.K108E

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SOX11

NM_003108.4:p.K108E

hg38:chr2:5693043 A>G

Associated Papers

Cochlear nerve deficiency in SOX11-related Coffin-Siris syndrome.

Alburaiky S et al.

American Journal of Medical Genetics. Part A, 2022

35642566 (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."