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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SHANK3

Variant:p.E1311fs

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SHANK3

NM_001372044.2:p.E1311fs

hg38:chr22:50721539 G>GN

Associated Papers

Modeling autism by SHANK gene mutations in mice.

Jiang YH et al.

Neuron, 2013

23583105 (PubMed )

Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders.

Boccuto L et al.

European Journal of Human Genetics : Ejhg, 2013

22892527 (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."