Varaico: Literature-Extracted Genetic Variants

Gene:CC2D1A
Variant:p.G427G
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CC2D1A

NM_017721.5:p.G427G

Associated Papers

A nonsense CC2D1A variant is associated with congenital anomalies, motor delay, hypotonia, and slight deformities.

Yi S et al.

Heliyon, 2024

38496842 (PubMed )
Supplement: mmc3.xlsx › Sheet1

Novel alterations of CC2D1A as a candidate gene in a Turkish sample of patients with autism spectrum disorder.

Sener EF et al.

The International Journal of Neuroscience, 2022

Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.

Cukier HN et al.

Npj Parkinson's Disease, 2022

35768426 (PubMed )
Supplement: 41531_2022_346_MOESM2_ESM.xlsx › SupTab1
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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."