Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.E2992K
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KMT2D

NM_003482.4:p.E2992K

Associated Papers

Clinical and genomic characterization of chemoradiation-resistant HPV-positive oropharyngeal squamous cell carcinoma.

Guo T et al.

Frontiers in Oncology, 2024

38505587 (PubMed )
Supplement: Table_2.xlsx › Patient_3

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

CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions.

Butcher DT et al.

American Journal of Human Genetics, 2017

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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."