Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.A2101fs
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KMT2D

NM_003482.4:p.A2101fs

Associated Papers

Clinical and molecular analysis of Guangxi patients with Kabuki syndrome and KMT2D mutations.

Yi S et al.

Heliyon, 2023

37810849 (PubMed )
Supplement: mmc4.xlsx › Variants_of_P_or_LP
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