Genetic & Genomic Medicinenpj Genomic MedicinePeer-reviewed
Biallelic truncation variants in ATP9A are associated with a novel autosomal recessive neurodevelopmental disorder
Francesca Mattioli, Hossein Darvish, Sohail Aziz Paracha…·Muhammad Ansar
The paper identifies biallelic truncation variants in ATP9A as a cause of a novel autosomal recessive neurodevelopmental disorder in two consanguineous families.
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