Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.R4238C
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KMT2D

NM_003482.4:p.R4238C

Associated Papers

Druggable genomic landscapes of high-grade gliomas.

Ghanem P et al.

Frontiers in Medicine, 2023

38143440 (PubMed )
Supplement: Table_1.xlsx › ST5

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

Does breast carcinoma belong to the Lynch syndrome tumor spectrum? - Somatic mutational profiles vs. ovarian and colorectal carcinomas.

Porkka NK et al.

Oncotarget, 2020

32292574 (PubMed )
Supplement: oncotarget-11-1244-s005.xlsx › Sheet1

Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns.

Li AH et al.

Genome Medicine, 2017

29089047 (PubMed )
Supplement: 13073_2017_482_MOESM6_ESM.xlsx › TableS5-_ClinicalCohortLookup

Mismatch repair deficiency associated with complete remission to combination programmed cell death ligand immune therapy in a patient with sporadic urothelial carcinoma: immunotheranostic considerations.

Castro MP et al.

Journal for Immunotherapy of Cancer, 2015

Novel mutations target distinct subgroups of medulloblastoma.

Robinson G et al.

Nature, 2012

22722829 (PubMed )
Supplement: NIHMS374717-supplement-table_9.xlsx › Tier1
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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."