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A Scalable, Cell-Based Method for the Functional Assessment of Ube3a Variants
Published on: October 10, 2022
A novel homozygous in-frame deletion variant in TPRKB causing Galloway-Mowat syndrome 5
Namanpreet Kaur1,2, Khushbu Shirsat1, Vivekananda Bhat1
1Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India.
No abstract available in PubMed .
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