A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency
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DOI: 10.1038/s41431-017-0039-5
Abstract: Genotype-first combined with reverse phenotyping has shown to be a powerful tool in human genetics, especially in the era of next generation sequencing. This combines the identification of individuals with mutations in the same gene… read more here.
Keywords: intellectual disability; phip haploinsufficiency; genotype first; approach ... See more keywords