Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.P2271S
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KMT2D

NM_003482.4:p.P2271S

Associated Papers

Comprehensive genetic profiling and molecularly guided treatment for patients with primary CNS tumors.

Kuehn JC et al.

Npj Precision Oncology, 2024

39143272 (PubMed )
Supplement: 41698_2024_674_MOESM2_ESM.xlsx › Supplementary_Data_3

Aberrant somatic hypermutation of CCND1 generates non-coding drivers of mantle cell lymphomagenesis.

Müller H et al.

Cancer Gene Therapy, 2022

35145272 (PubMed )
Supplement: 41417_2022_428_MOESM1_ESM.xlsx › 5k_data_set

Alignment-free method for functional annotation of amino acid substitutions: Application on epigenetic factors involved in hematologic malignancies.

Gemović B et al.

Plos One, 2021

33395407 (PubMed )
Supplement: pone.0244948.s001.pdf

High-frequency actionable pathogenic exome variants in an average-risk cohort.

Rego S et al.

Cold Spring Harbor Molecular Case Studies, 2018

30487145 (PubMed )
Supplement: supp_mcs.a003178_Supplemental_File_3.xlsx › Sheet1

Dissecting KMT2D missense mutations in Kabuki syndrome patients.

Cocciadiferro D et al.

Human Molecular Genetics, 2018

Targeted genomic analysis of Müllerian adenosarcoma.

Howitt BE et al.

The Journal of Pathology, 2015

Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients.

Micale L et al.

Human Mutation, 2014

24633898 (PubMed )
Supplement: humu0035-0841-SD2.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."