Varaico: Literature-Extracted Genetic Variants

Gene:KMT5B
Variant:p.K428*
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KMT5B

NM_017635.5:p.K428*

Associated Papers

Identification of novel Mendelian disorders of the epigenetic machinery (MDEMs)-associated functional mutations and neurodevelopmental disorders.

Li S et al.

Qjm : Monthly Journal of the Association of Physicians, 2023

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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."