Varaico: Literature-Extracted Genetic Variants

Gene:DYRK1A
Variant:p.G497delFs
Back to variants list

DYRK1A

NM_001347721.2:p.G497delFs

Associated Papers

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.

Wang T et al.

Nature Communications, 2020

33004838 (PubMed )
Supplement: 41467_2020_18723_MOESM10_ESM.xlsx › Supplementary_Data_8

Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use.

Husson T et al.

Translational Psychiatry, 2020

32094338 (PubMed )
Supplement: 41398_2020_760_MOESM2_ESM.xlsx › De_novo

A De Novo Mutation in DYRK1A Causes Syndromic Intellectual Disability: A Chinese Case Report.

Qiao F et al.

Frontiers in Genetics, 2019

31803247 (PubMed )
Supplement: DataSheet_2.pdf

Clinical phenotype of ASD-associated DYRK1A haploinsufficiency.

Earl RK et al.

Molecular Autism, 2017

29034068 (PubMed )
Supplement: 13229_2017_173_MOESM1_ESM.xlsx › NM101395.2_snvs_indels

Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders.

Fokstuen S et al.

Human Genomics, 2016

Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID.

van Bon BW et al.

Molecular Psychiatry, 2016

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."