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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SERPINB6

Variant:p.G9C

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SERPINB6

NM_004568.6:p.G9C

hg38:chr6:2959308 C>A

Associated Papers

Loss of TBC1D2B causes a progressive neurological disorder with gingival overgrowth.

Harms FL et al.

European Journal of Human Genetics : Ejhg, 2024

38374468 (PubMed )

Supplement: 41431_2024_1563_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."