Varaico: Literature-Extracted Genetic Variants

Gene:C2
Variant:p.S38C
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C2

NM_000063.6:p.S38C

Associated Papers

Autism-linked mutations of CTTNBP2 reduce social interaction and impair dendritic spine formation via diverse mechanisms.

Shih PY et al.

Acta Neuropathologica Communications, 2020

Activation of Akt independent of PTEN and CTMP tumor-suppressor gene mutations in epilepsy-associated Taylor-type focal cortical dysplasias.

Schick V et al.

Acta Neuropathologica, 2006

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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."