Associated Papers
Refining the clinical phenotype associated with missense variants in exons 38 and 39 of KMT2D.
Tharreau M et al.
American Journal of Medical Genetics. Part A, 2022
Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay.
Seo GH et al.
Molecular Medicine (cambridge, Mass.), 2022
A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome.
Cuvertino S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Genomic analysis of head and neck cancer cases from two high incidence regions.
Perdomo S et al.
Plos One, 2018
29377909 (PubMed )
Supplement: pone.0191701.s007.xlsx › S3.Somatic_Mutations_SNVs_
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