Varaico: Literature-Extracted Genetic Variants

Gene:DYRK1A
Variant:p.E208fs
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DYRK1A

NM_001396.5:p.E208fs

Associated Papers

Novel splicing variant and gonadal mosaicism in DYRK1A gene identified by whole-genome sequencing in multiplex autism spectrum disorder families.

Agha Gholizadeh M et al.

Neurogenetics, 2024

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

Ocular Phenotype Associated with DYRK1A Variants.

Méjécase C et al.

Genes, 2021

Clinical phenotype of ASD-associated DYRK1A haploinsufficiency.

Earl RK et al.

Molecular Autism, 2017

Case report of novel DYRK1A mutations in 2 individuals with syndromic intellectual disability and a review of the literature.

Luco SM et al.

Bmc Medical Genetics, 2016

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

van Bon BW et al.

Molecular Psychiatry, 2016

Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A.

Bronicki LM et al.

European Journal of Human Genetics : Ejhg, 2015

DYRK1A mutations in two unrelated patients.

Ruaud L et al.

European Journal of Medical Genetics, 2015

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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."