QuickView for Skd/Med13 (gene)

1. Cochleovestibular Phenotype in a Rare Genetic MED13L Mutation.
2. Molecular and Functional Characterisation of a Novel Intragenic 12q24.21 Deletion Resulting in MED13…
3. Splice site variants in the canonical donor site of MED13L exon 7 lead to intron retention in patien…
4. Performance of meta-predictors for the classification of MED13L missense variations, implication of …
5. MED13L and its disease-associated variants influence the dendritic development of cerebral cortical …

There were no clinical trials for Skd/Med13