Article

Reciprocal differentiation via GABAergic components and ASD-related phenotypes in hES with 1q21.1 CNV

2021-09-13

Abstract excerpt

Copy number variations (CNVs) in the distal 1q21.1 region, both deletion (1q del) and duplication (1q dup), are associated with autism spectrum disorder, epilepsy and schizophrenia. Besides common phenotypes, 1q del and 1q dup manifest opposite clinical phenotypes—e.g., microcephaly in 1q del and macrocephaly in 1q dup. However, molecular and cellular mechanisms are still elusive. We generate isogenic human ES (hE...

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Literature Corpus work: e4de0e81-11a5-5b1b-8b94-f9e569442fdc
DOI: 10.1101/2021.09.13.460033

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