Tag: SCN2A

Simons Variation in Individuals Project (Simons VIP): New data now available

New Simons VIP data have recently been added to SFARI Base. This data release includes phenotypic data from individuals with 16p11.2 copy number variants (CNVs), 1q21.1 CNVs, GRIN2B mutations and SCN2A mutations (all enrolled in the Phase 2 study). New genetic data (single nucleotide polymorphism microarray data and molecular inversion probe sequencing data) are available for many of the 16p11.2 CNV families enrolled in Phase 1.

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