Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.Q3932_Q3938del0
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KMT2D

NM_003482.4:p.Q3932_Q3938del0

Associated Papers

Prevalence and clinical relavance of germline mutations in Chinese patients with pancreatic cancer.

Jiang Y et al.

Cell Communication and Signaling : Ccs, 2025

40544258 (PubMed )
Supplement: 12964_2025_2281_MOESM1_ESM.xlsx › RJ.P_LP.germline.final

Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development.

Van Laarhoven PM et al.

Human Molecular Genetics, 2015

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