Inherited and de novo variants extend the etiology of TAOK1-associated neurodevelopmental disorder
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DOI: 10.1101/mcs.a006180
Abstract: Alterations in the TAOK1 gene have recently emerged as the cause of developmental delay with or without intellectual impairment or behavioral abnormalities (MIM # 619575). The 32 cases currently described in the literature have predominantly… read more here.
Keywords: taok1 associated; etiology; novo variants; variants extend ... See more keywords
Inherited and De Novo Variation in Lithuanian Genomes: Introduction to the Analysis of the Generational Shift
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DOI: 10.3390/genes13040569
Abstract: Most genetic variants are rare and specific to the population, highlighting the importance of characterizing local population genetic diversity. Many countries have initiated population-based whole-genome sequencing (WGS) studies. Genomic variation within Lithuanian families are not… read more here.
Keywords: variation; novo variation; analysis; inherited novo ... See more keywords