Varaico: Literature-Extracted Genetic Variants

Gene:DOT1L
Variant:p.S1355*
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DOT1L

NM_032482.3:p.S1355*

Associated Papers

Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies.

Nil Z et al.

American Journal of Human Genetics, 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."