Varaico: Literature-Extracted Genetic Variants

Gene:DYRK1A
Variant:p.I48delFs
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DYRK1A

NM_001347721.2:p.I48delFs

Associated Papers

Identification of two novel and one rare mutation in DYRK1A and prenatal diagnoses in three Chinese families with intellectual Disability-7.

Huang C et al.

Frontiers in Genetics, 2023

Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.

Zhang Y et al.

Molecular Neurobiology, 2021

33860439 (PubMed )
Supplement: 12035_2021_2377_MOESM14_ESM.xlsx › NDD_probands__public_

Ocular Phenotype Associated with DYRK1A Variants.

Méjécase C et al.

Genes, 2021

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

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

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

van Bon BW et al.

Molecular Psychiatry, 2016

Recurrent de novo mutations implicate novel genes underlying simplex autism risk.

O'Roak BJ et al.

Nature Communications, 2014

25418537 (PubMed )
Supplement: NIHMS636245-supplement-2.xlsx › Sheet_1
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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."