Varaico: Literature-Extracted Genetic Variants

Gene:DYRK1A
Variant:p.P497delFs
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DYRK1A

NM_001396.5:p.P497delFs

Associated Papers

Characterizing Sensory Phenotypes of Subgroups with a Known Genetic Etiology Pertaining to Diagnoses of Autism Spectrum Disorder and Intellectual Disability.

Hudac CM et al.

Journal of Autism and Developmental Disorders, 2024

37031308 (PubMed )
Supplement: 10803_2023_5897_MOESM2_ESM.xlsx › SITable2

Shared and divergent mental health characteristics of ADNP-, CHD8- and DYRK1A-related neurodevelopmental conditions.

Neuhaus E et al.

Journal of Neurodevelopmental Disorders, 2024

38622540 (PubMed )
Supplement: 11689_2024_9532_MOESM1_ESM.xlsx › Sheet1

Characterizing executive functioning and associated behaviors in individuals with dual-specificity tyrosine phosphorylation-regulated kinase 1A (DYRK1A) syndrome.

Rea HM et al.

Frontiers in Neuroscience, 2024

39840013 (PubMed )
Supplement: Table_1.XLSX › Sheet1

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

Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder.

Courraud J et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

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_

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

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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."