The phenotypic and genotypic spectrum of individuals with mono‐ or biallelic ANK3 variants
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DOI: 10.1111/cge.14587
Abstract: ANK3 encodes ankyrin‐G, a protein involved in neuronal development and signaling. Alternative splicing gives rise to three ankyrin‐G isoforms comprising different domains with distinct expression patterns. Mono‐ or biallelic ANK3 variants are associated with non‐specific… read more here.
Keywords: ank3; phenotypic genotypic; mono biallelic; biallelic ank3 ... See more keywords