Varaico: Literature-Extracted Genetic Variants

Gene:SHANK2
Variant:p.P1127L
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SHANK2

NM_012309.5:p.P1127L

Associated Papers

Genetic variability in scaffolding proteins and risk for schizophrenia and autism-spectrum disorders: a systematic review.

Soler J et al.

Journal of Psychiatry & Neuroscience : Jpn, 2018

Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation.

Berkel S et al.

Nature Genetics, 2010

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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."