Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.Q3964*
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KMT2D

NM_003482.4:p.Q3964*

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

OMIXCARE: OMICS technologies solved about 33% of the patients with heterogeneous rare neuro-developmental disorders and negative exome sequencing results and identified 13% additional candidate variants.

Colin E et al.

Frontiers in Cell and Developmental Biology, 2022

Combined copy number and mutation analysis identifies oncogenic pathways associated with transformation of follicular lymphoma.

Bouska A et al.

Leukemia, 2017

27389057 (PubMed )
Supplement: NIHMS790817-supplement-6.xlsx › Sheet1

Frequent mutation of histone-modifying genes in non-Hodgkin lymphoma.

Morin RD et al.

Nature, 2011

21796119 (PubMed )
Supplement: NIHMS313098-supplement-9.xls › ALL_EVENTS_MLL2
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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."