Varaico: Literature-Extracted Genetic Variants

Gene:MED13
Variant:p.R1409*
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MED13

NM_005121.3:p.R1409*

Associated Papers

A novel frameshift variant in the MED13 gene causing intellectual developmental disorder-61 in a Chinese family.

Yang Q et al.

Frontiers in Pediatrics, 2025

Whole exome sequencing and polygenic assessment of a Swedish cohort with severe developmental language disorder.

Yahia A et al.

Human Genetics, 2024

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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."