Varaico: Literature-Extracted Genetic Variants

Gene:DYRK1A
Variant:p.L207_E208Fs
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DYRK1A

NM_001396.5:p.L207_E208Fs

Associated Papers

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

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

Qiao F et al.

Frontiers in Genetics, 2019

31803247 (PubMed )
Supplement: DataSheet_2.pdf

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."