Defining the phenotypical spectrum associated with variants in TUBB2A
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DOI: 10.1136/jmedgenet-2019-106740
Abstract: Background Variants in genes belonging to the tubulin superfamily account for a heterogeneous spectrum of brain malformations referred to as tubulinopathies. Variants in TUBB2A have been reported in 10 patients with a broad spectrum of… read more here.
Keywords: brain malformations; phenotypical spectrum; variants tubb2a; spectrum ... See more keywords