Varaico: Literature-Extracted Genetic Variants

Gene:MED13
Variant:p.L869L
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MED13

NM_005121.3:p.L869L

Associated Papers

Report of a de novo c.2605C > T (p.Pro869Ser) change in the MED13L gene and review of the literature for MED13L-related intellectual disability.

Yi Z et al.

Italian Journal of Pediatrics, 2020

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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."