A novel PAK1 variant causative of neurodevelopmental disorder with postnatal macrocephaly
A novel PAK1 variant causative of neurodevelopmental disorder with postnatal macrocephaly
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England: Nature Publishing Group
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Language
English
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England: Nature Publishing Group
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Contents
p21-activated kinases (PAKs) are protein serine/threonine kinases stimulated by Rho-family p21 GTPases such as CDC42 and RAC. PAKs have been implicated in several human disorders, with pathogenic variants in PAK3 associated with intellectual disability and several PAK members, especially PAK1 and PAK4, overexpressed in human cancer. Recently, de no...
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Full title
A novel PAK1 variant causative of neurodevelopmental disorder with postnatal macrocephaly
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TN_cdi_proquest_journals_2384801557
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2384801557
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ISSN
1434-5161
E-ISSN
1435-232X
DOI
10.1038/s10038-020-0728-8
