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Condition: Ataxia
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Total 2 results found since Jan 2013.

Whole exome screening of neurodevelopmental regression disorders in a cohort of Egyptian patients
This study provided an NGS-based approach of the genetic causes of developmental regression and neurodeg enerative diseases as it comprised different variants and de novo mutations with complex phenotypes of these diseases which in turn help in early diagnoses and counseling for affected families.
Source: Neurogenetics - November 26, 2022 Category: Genetics & Stem Cells Source Type: research