Varaico: Literature-Extracted Genetic Variants

Gene:KMT2B
Variant:p.R1597W
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KMT2B

NM_014727.3:p.R1597W

Associated Papers

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

Cif L et al.

Arxiv, 2025

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

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

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

Update on KMT2B-Related Dystonia.

Zech M et al.

Current Neurology and Neuroscience Reports, 2019

An atypical case of early-onset dystonia with a novel missense variant in KMT2B.

Zhou XY et al.

Parkinsonism & Related Disorders, 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."