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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SOX18

Variant:p.G65R

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SOX18

NM_018419.3:p.G65R

hg38:chr20:64049324 C>T

Associated Papers

Expanding the clinical spectrum of COL2A1 related disorders by a mass like phenotype.

Demal TJ et al.

Scientific Reports, 2022

35296718 (PubMed )

Supplement: 41598_2022_8476_MOESM1_ESM.docx

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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."