Varaico: Literature-Extracted Genetic Variants

Gene:CC2D1A
Variant:p.R789Q
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CC2D1A

NM_017721.5:p.R789Q

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

Activated leukocyte cell adhesion molecule/cluster of differentiation 166 rs10933819 (G>A) variant is associated with familial intracranial aneurysms.

Aitkulova A et al.

Biomedical Reports, 2022

35815187 (PubMed )
Supplement: Supplementary_Data.xlsx › 713_shortlisted_variants
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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."