Varaico: Literature-Extracted Genetic Variants

Gene:KMT2B
Variant:p.T176fs
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KMT2B

NM_014727.3:p.T176fs

Associated Papers

Unravelling the role of PLK1 in tumorigenesis by revealing the mutational landscape of colorectal and lung cancer with PLK1 mutations.

Wang S et al.

Journal of Cellular and Molecular Medicine, 2024

38887977 (PubMed )
Supplement: JCMM-28-e18497-s004.xlsx › Sheet1

Whole exome sequencing and clinical investigation of young onset dystonia: What can we learn?

Ahn JH et al.

Parkinsonism & Related Disorders, 2023

De novo variants in neurodevelopmental disorders-experiences from a tertiary care center.

Brunet T et al.

Clinical Genetics, 2021

Distinct genomic profile in h. pylori-associated gastric cancer.

Zhang X et al.

Cancer Medicine, 2021

33751865 (PubMed )
Supplement: CAM4-10-2461-s001.xlsx › somatic_muts.gastric_samples.le

Failure to thrive - an overlooked manifestation of KMT2B-related dystonia: a case presentation.

Ng A et al.

Bmc Neurology, 2020

32546208 (PubMed )
Supplement: 12883_2020_1798_MOESM7_ESM.xlsx › Sheet1

Successful Pallidal Stimulation in a Patient with KMT2B-Related Dystonia.

Mun JK et al.

Journal of Movement Disorders, 2020

Update on KMT2B-Related Dystonia.

Zech M et al.

Current Neurology and Neuroscience Reports, 2019

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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."