Variant: rs1057518345 

    present in Gene: ADNP
    present in Chromosome: 20
    Position on Chromosome: 50894172
    Alleles of this Variant: ACTA/-

rs1057518345 in ADNP gene and Dysmorphic features PMID 28221363 2017 Premature primary tooth eruption in cognitive/motor-delayed ADNP-mutated children.

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

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.

PMID 24531329 2014 A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP.

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

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

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

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

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