Varaico: Literature-Extracted Genetic Variants

Gene:CC2D2A
Variant:p.V686M
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CC2D2A

NM_001378615.1:p.V686M

Associated Papers

Rare Variant Burden and Behavioral Phenotypes in Children with Autism in Slovakia.

Repiská G et al.

Genes, 2025

40869941 (PubMed )
Supplement: genes-16-00893-s001.zip › File_S1.xlsx › suplement

Challenges for the implementation of next generation sequencing-based expanded carrier screening: Lessons learned from the ciliopathies.

Vintschger E et al.

European Journal of Human Genetics : Ejhg, 2023

36550190 (PubMed )
Supplement: 41431_2022_1267_MOESM2_ESM.xlsx › VUS_2018_2020
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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."