Biallelic truncation variants in ATP9A are associated with a novel autosomal recessive neurodevelopmental disorder
Abstract Intellectual disability (ID) is a highly heterogeneous disorder with hundreds of associated genes. Despite progress in the identification of the genetic causes of ID following the introduction of high-throughput sequencing, about half of affected individuals still remain without a molecular...
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| Auteurs principaux: | , , , , , , , , , |
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| Format: | article |
| Langue: | EN |
| Publié: |
Nature Portfolio
2021
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| Accès en ligne: | https://doaj.org/article/400519f225054fa7a452b59040f859dd |
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