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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KMT2B

Variant:p.P1886delFs

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KMT2B

NM_014727.3:p.P1886delFs

hg38:chr19:35732125 GC>G

Associated Papers

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

33150406 (PubMed )

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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."