Varaico: Literature-Extracted Genetic Variants

Gene:KMT2B
Variant:p.L604fs
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KMT2B

NM_014727.3:p.L604fs

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

Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders.

Faundes V et al.

American Journal of Human Genetics, 2018

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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."