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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CC2D1A

Variant:p.S232S

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CC2D1A

NM_017721.5:p.S232S

hg38:chr19:13913586 T>G

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

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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."