Variant: rs779340209 

    present in Gene: ADNP
    present in Chromosome: 20
    Position on Chromosome: 50892501
    Alleles of this Variant: G/C

rs779340209 in ADNP gene and Movement Disorders PMID 24531329 2014 A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP.

PMID 11013255 2001 Cloning and characterization of the human activity-dependent neuroprotective protein.

PMID 23160955 2012 Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.

PMID 25169753 2014 The transcriptional regulator ADNP links the BAF (SWI/SNF) complexes with autism.

PMID 22495309 2012 Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.

PMID 28221363 2017 Premature primary tooth eruption in cognitive/motor-delayed ADNP-mutated children.

PMID 25057125 2014 Expansion of the clinical phenotype associated with mutations in activity-dependent neuroprotective protein.

PMID 26637798 2015 Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms.

PMID 27031564 2016 Additional data on the clinical phenotype of Helsmoortel-Van der Aa syndrome associated with a novel truncating mutation in ADNP gene.

PMID 28191889 2017 Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.

PMID 26845707 2016 Comprehensive molecular testing in patients with high functioning autism spectrum disorder.