Varaico: Literature-Extracted Genetic Variants

Gene:MED16
Variant:p.D57Splc
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MED16

NM_005481.3:p.D57Splc

Associated Papers

Bi-allelic MED16 variants cause a MEDopathy with intellectual disability, motor delay, and craniofacial, cardiac, and limb malformations.

Guillouet C et al.

American Journal of Human Genetics, 2025

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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."