Varaico: Literature-Extracted Genetic Variants

Gene:KMT2B
Variant:p.Q809*
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KMT2B

NM_014727.3:p.Q809*

Associated Papers

KMT2B-Related Dystonia in Indian Patients With Literature Review and Emphasis on Asian Cohort.

Dhar D et al.

Journal of Movement Disorders, 2023

37309110 (PubMed )
Supplement: jmd-23035-Supplementary-Table-3.pdf

Exome sequencing in paediatric patients with movement disorders.

Kwong AK et al.

Orphanet Journal of Rare Diseases, 2021

KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.

Cif L et al.

Brain : a Journal of Neurology, 2020

Exome sequencing for paediatric-onset diseases: impact of the extensive involvement of medical geneticists in the diagnostic odyssey.

Mak CC et al.

Npj Genomic Medicine, 2018

30109123 (PubMed )
Supplement: 41525_2018_56_MOESM1_ESM.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."