Varaico: Literature-Extracted Genetic Variants

Gene:KMT2B
Variant:p.R95W
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KMT2B

NM_014727.3:p.R95W

Associated Papers

Large-Scale Screening: Phenotypic and Mutational Spectrum in Isolated and Combined Dystonia Genes.

Thomsen M et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2024

MEN4 and CDKN1B mutations: the latest of the MEN syndromes.

Alrezk R et al.

Endocrine-related Cancer, 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."