Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.K5K
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KMT2D

NM_003482.4:p.K5K

Associated Papers

CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions.

Butcher DT et al.

American Journal of Human Genetics, 2017

28475860 (PubMed )
Supplement: mmc2.xlsx › TS3.CHD7phenotype

Comprehensive genomic profiling of 295 cases of clinically advanced urothelial carcinoma of the urinary bladder reveals a high frequency of clinically relevant genomic alterations.

Ross JS et al.

Cancer, 2016

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