Varaico: Literature-Extracted Genetic Variants

Gene:KMT2B
Variant:p.A1563fs
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KMT2B

NM_014727.3:p.A1563fs

Associated Papers

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

Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.

Meyer E et al.

Nature 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."