Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.Q3990*
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KMT2D

NM_003482.4:p.Q3990*

Associated Papers

EZH2 mutations in follicular lymphoma distort H3K27me3 profiles and alter transcriptional responses to PRC2 inhibition.

Romero P et al.

Nature Communications, 2024

38658543 (PubMed )
Supplement: 41467_2024_47701_MOESM5_ESM.xlsx › Distinct_times_same_10_patients

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

Kidney and urinary tract findings among patients with Kabuki (make-up) syndrome.

Merdler-Rabinowicz R et al.

Pediatric Nephrology (berlin, Germany), 2021

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."