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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SHANK3

Variant:p.T1372delFs

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SHANK3

NM_001372044.2:p.T1372delFs

hg38:chr22:50721722 AC>A

Associated Papers

Subacute Neuropsychiatric Syndrome in Girls With SHANK3 Mutations Responds to Immunomodulation.

Bey AL et al.

Pediatrics, 2020

32015180 (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."