Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.D90H
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KMT2D

NM_003482.4:p.D90H

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.sapp.pdf
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