Assuming med12 is required, and gene is required, the following 2 results were found.
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MED12L Variant and Its Role in Human Diseasehttps://cnke.org/articles/360
MED12L is a gene that plays a crucial role in transcriptional coactivation of nearly all RNA polymerase II-dependent genes. It is highly conserved across eukaryotes and contains 43 exons. The protein encoded by MED12L is a component of the Mediator...
- Type: Article
- Author: Editor
- Category: Home
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Opitz-Kaveggia Syndrome (OKS)https://cnke.org/articles/361
Mutation in the FLNA gene (Xq28). FGS4: Mutation in the CASK gene (Xp11). FGS3: Mapped to Xp22.3. FGS5: Mapped to Xq22.3. MED12 gene mutation should be reserved for Opitz-Kaveggia syndrome. Clinical Features Initial descriptions included mental...
- Type: Article
- Author: Editor
- Category: Home