Varaico: Literature-Extracted Genetic Variants

Gene:RNF40
Variant:p.D148Splc
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RNF40

NM_014771.4:p.D148Splc

Associated Papers

Genomic analysis of 11,555 probands identifies 60 dominant congenital heart disease genes.

Sierant MC et al.

Proceedings of the National Academy of Sciences of the United States of America, 2025

40127276 (PubMed )
Supplement: pnas.2420343122.sd04.xlsx › DS4._Panel_Mutations
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