Varaico: Literature-Extracted Genetic Variants

Gene:PPP1R12A
Variant:p.L178F
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PPP1R12A

NM_002480.3:p.L178F

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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