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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SETBP1

Variant:p.Y1066*

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SETBP1

NM_015559.3:p.Y1066*

hg38:chr18:44952538 C>A

Associated Papers

Identifying SETBP1 haploinsufficiency molecular pathways to improve patient diagnosis using induced pluripotent stem cells and neural disease modelling.

Shaw NC et al.

Molecular Autism, 2024

39350244 (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."