Genetic & Genomic MedicinemedRxivPreprint
Multiple and novel molecular mechanisms in TUBA1A-related tubulinopathy: insights from deep clinical and neuroradiological phenotyping.
James Fasham, Rucha Pandit, Adam T. Higgins…·Abhijit Dixit
The paper identifies novel TUBA1A variants and shows reduced penetrance of malformations of cortical development in tubulinopathies.
2 citations