Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.F2536S
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KMT2D

NM_003482.4:p.F2536S

Associated Papers

Expanding the phenotypic spectrum of NOTCH1 variants: clinical manifestations in families with congenital heart disease.

Stanley KJ et al.

European Journal of Human Genetics : Ejhg, 2024

38778082 (PubMed )
Supplement: 41431_2024_1629_MOESM2_ESM.xlsx › A-III-4

Targeted-Gene Sequencing to Catch Triple Negative Breast Cancer Heterogeneity before and after Neoadjuvant Chemotherapy.

Di Cosimo S et al.

Cancers, 2019

31717320 (PubMed )
Supplement: cancers-11-01753-s001.zip › TableS2.xlsx › Supplementary_Table_Mutazioni

Targeting HER2 in colorectal cancer: The landscape of amplification and short variant mutations in ERBB2 and ERBB3.

Ross JS et al.

Cancer, 2018

29338072 (PubMed )
Supplement: CNCR-124-1358-s002.xlsx › Colon

Whole-exome sequencing defines the mutational landscape of pheochromocytoma and identifies KMT2D as a recurrently mutated gene.

Juhlin CC et al.

Genes, Chromosomes & Cancer, 2015

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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."