Varaico: Literature-Extracted Genetic Variants

Gene:EFCAB7
Variant:p.G228Splc
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EFCAB7

NM_032437.4:p.G228Splc

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

A splicing variant in EFCAB7 hinders ciliary transport and disrupts cardiac development.

Yang X et al.

The Journal of Biological Chemistry, 2025

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