Varaico: Literature-Extracted Genetic Variants

Gene:CC2D1A
Variant:p.A105A
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CC2D1A

NM_017721.5:p.A105A

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

Characterization of the genomic alterations in poorly differentiated thyroid cancer.

Lee Y et al.

Scientific Reports, 2023

37932340 (PubMed )
Supplement: 41598_2023_46466_MOESM2_ESM.xlsx › P10
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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."