Varaico: Literature-Extracted Genetic Variants

Gene:EVC
Variant:p.N313_M314Splc
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EVC

NM_153717.3:p.N313_M314Splc

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

Identification of two novel genetic variants for Ellis-van Creveld syndrome from a Chinese family through whole exome sequencing.

Jiang X et al.

European Journal of Obstetrics, Gynecology, and Reproductive Biology, 2024

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