Varaico: Literature-Extracted Genetic Variants

Gene:KMT2A
Variant:p.R130Q
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KMT2A

NM_001197104.2:p.R130Q

Associated Papers

DNA damage response and repair gene mutations predict clinical outcomes in biliary tract cancer.

Tan S et al.

Cancer, 2025

39876053 (PubMed )
Supplement: supplement_1.pdf

Landscape of mSWI/SNF chromatin remodeling complex perturbations in neurodevelopmental disorders.

Valencia AM et al.

Nature Genetics, 2023

Clonal relationship and directionality of progression of synchronous endometrial and ovarian carcinomas in patients with DNA mismatch repair-deficiency associated syndromes.

Moukarzel LA et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2021

33328602 (PubMed )
Supplement: NIHMS1642406-supplement-Supplementary_Material.pdf

Pan-cancer whole-genome analyses of metastatic solid tumours.

Priestley P et al.

Nature, 2019

31645765 (PubMed )
Supplement: 41586_2019_1689_MOESM4_ESM.pdf
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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."