Varaico: Literature-Extracted Genetic Variants

Gene:DYRK1A
Variant:p.G315insFs
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DYRK1A

NM_001396.5:p.G315insFs

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

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

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