Varaico: Literature-Extracted Genetic Variants

Gene:MED12L
Variant:p.P324fs
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MED12L

NM_001393769.1:p.P324fs

Associated Papers

Correspondence on "Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect" by Nizon et al.

Ferraz MK et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2022

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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."