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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:C2CD3

Variant:p.E2025*

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C2CD3

NM_001286577.2:p.E2025*

hg38:chr11:74034087 C>A

Associated Papers

Loss-of-function variants in ciliary genes confer high risk for tetralogy of Fallot.

Zhou Y et al.

Science Advances, 2025

41071877 (PubMed )

Supplement: sciadv.adt0836_tables_s1_to_s6.zip › adt0836_table_s2.xlsx › Table_S2

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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."