Varaico: Literature-Extracted Genetic Variants

Gene:KMT2B
Variant:p.R152W
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KMT2B

NM_014727.3:p.R152W

Associated Papers

Large-scale genetic characterization of Parkinson's disease in the African and African admixed populations.

Akçimen F et al.

Brain : a Journal of Neurology, 2025

41058593 (PubMed )
Supplement: awaf379_supplementary_data.zip › brain-2025-00177-File011.xlsx › SupplementaryTable7

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

Identification of Novel KMT2B Variants in Chinese Dystonia Patients via Whole-Exome Sequencing.

Ma J et al.

Frontiers in Neurology, 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."