Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism

INIS

• proteins 100%
• data 100%
• losses 100%
• speech 100%
• diseases 50%
• genes 50%
• cell cycle 50%
• spectra 50%
• humans 50%
• failures 50%
• growth 50%
• phenotype 50%
• stability 50%
• modeling 50%
• epilepsy 50%
• balances 50%
• feeding 50%
• rna 50%
• disturbances 50%
• nmr imaging 50%
• chromosomal aberrations 50%
• residues 50%
• drosophila 50%

Biochemistry, Genetics and Molecular Biology

• Mental Retardation 100%
• Missense 100%
• Ankyrin 100%
• Cofactors 50%
• Chromosomal Aberration 50%
• Ankyrin Repeat 50%
• Indel 50%
• Nervous System Development 50%
• RNA Sequencing 50%
• Protein Modeling 50%
• Haploinsufficiency 50%
• Orthology 50%
• Cell Cycle Progression 50%
• Assertiveness 50%