Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.V5435M
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KMT2D

NM_003482.4:p.V5435M

Associated Papers

An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.

Choufani S et al.

American Journal of Human Genetics, 2022

36130591 (PubMed )
Supplement: mmc2.xlsx › Table_S3
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