Browsing by Author "d0ada084-19d6-4877-b045-eb98e9a1c253"
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Faundes, Víctor; Malone, Geraldine; Newman, William G.; Banka, Siddharth (Nature Publishing Group, 2019)Determining the clinical significance of germline and somatic KMT2D missense variants (MVs) in Kabuki syndrome (KS) and cancers can be challenging. We analysed 1920 distinct KMT2D MVs that included 1535 germline MVs in ...