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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SETBP1

Variant:p.D868E

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SETBP1

NM_015559.3:p.D868E

hg38:chr18:44951944 C>G

Associated Papers

Schinzel-Giedion syndrome: communication, feeding and motor skills in 16 individuals.

Morison LD et al.

Neurogenetics, 2025

40859069 (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."