Varaico: Literature-Extracted Genetic Variants

Gene:DYRK1A
Variant:p.R467Q
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DYRK1A

NM_001396.5:p.R467Q

Associated Papers

A Comprehensive Study of De Novo Mutations on the Protein-Protein Interaction Interfaces Provides New Insights into Developmental Delay.

Maharjan DT et al.

Biomolecules, 2022

36358993 (PubMed )
Supplement: biomolecules-12-01643-s001.zip › Supplemental_Table_S2____PsychiPPI_in_developmental_delay.xlsx › Sheet1

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_

A De Novo Mutation in DYRK1A Causes Syndromic Intellectual Disability: A Chinese Case Report.

Qiao F et al.

Frontiers in Genetics, 2019

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