Genotype-phenotype correlation: Inheritance and variant-type infer pathogenicity in IQSEC2 gene.
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DOI: 10.1016/j.ejmg.2019.103735
Abstract: Pathogenic variants in the IQSEC2 gene including nonsense, frameshift, splice-alterations, deletions, and missense changes have been identified in individuals with X-linked mental retardation. Although highly variable, clinical features may include hypotonia, moderate to severe delayed… read more here.
Keywords: genotype phenotype; phenotype correlation; variant type; iqsec2 gene ... See more keywords