Article

Functional modeling of NMIHBA-causing <i>PRUNE1</i> variants reveals a requirement for its exopolyphosphatase activity

2020-03-04

Abstract excerpt

Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies (NMIHBA) is an autosomal recessive neurodevelopmental and neurodegenerative disorder characterized by global developmental delay and severe intellectual disability. Microcephaly, progressive cortical atrophy, cerebellar hypoplasia and delayed myelination are neurological hallmarks in affected individuals. NMIHBA is caused by bia...

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Literature Corpus work: 4603a801-123c-5b18-800a-af962e2246e0
DOI: 10.1101/2020.03.02.973909

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