Associated Papers
Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay.
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Molecular Medicine (cambridge, Mass.), 2022
35346031 (PubMed )
Supplement: 10020_2022_464_MOESM3_ESM.xlsx › Supplementary_Table_2
Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.
Cogné B et al.
American Journal of Human Genetics, 2019
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