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Genotype–phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorderNARA Subscribed
Contactin-associated protein-like 2 ( CNTNAP2 ) gene encodes for CASPR2, a presynaptic type 1 transmembrane protein, involved in cell–cell adhesion and synaptic interactions. Biallelic CNTNAP2 loss has been associated with “Pitt-Hopkins-like syndrome-1” (MIM#610042), while the pathogenic role of heterozygous variants remains controversial. We report 22 novel patients harboring mono- ( n = 2) and bi-allelic ( n = 20) CNTNAP2 va...
Substantial efforts and investments are being made to increase the scale and improve the effectiveness of marine conservation globally. Though it is mandated by international law and central to conservation policy, less attention has been given to how to operationalize social equity in and through the pursuit of marine conservation. In this article, we aim to bring greater attention to this topic through reviewing how social e...
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