Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.Q3667*
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KMT2D

NM_003482.4:p.Q3667*

Associated Papers

Characterizing the Mutational Landscape of Diffuse Large B-Cell Lymphoma in a Prospective Cohort of Mexican Patients.

Candelaria M et al.

International Journal of Molecular Sciences, 2024

39273276 (PubMed )
Supplement: ijms-25-09328-s001.zip › ijms-3114367-supplementary.pdf

Clinical and Molecular Characterization of Hyperinsulinism in Kabuki Syndrome.

Rosenfeld E et al.

Journal of the Endocrine Society, 2024

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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