Varaico: Literature-Extracted Genetic Variants

Gene:DYRK1A
Variant:p.V222fs
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DYRK1A

NM_001396.5:p.V222fs

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

Ocular Phenotype Associated with DYRK1A Variants.

Méjécase C et al.

Genes, 2021

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

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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."