Associated Papers
Paternal uniparental disomy of chromosome 16 resulting in homozygosity of a GPT2 mutation causes intellectual and developmental disability.
Liu J et al.
European Journal of Medical Genetics, 2022
Diagnostic Yields of Trio-WES Accompanied by CNVseq for Rare Neurodevelopmental Disorders.
Gao C et al.
Frontiers in Genetics, 2019
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