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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SHANK3

Variant:p.P1263insFs

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SHANK3

NM_001372044.2:p.P1263insFs

hg38:chr22:50721394 A>AC

Associated Papers

Neurodegeneration or dysfunction in Phelan-McDermid syndrome? A multimodal approach with CSF and computational MRI.

Jesse S et al.

Orphanet Journal of Rare Diseases, 2023

37670319 (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."