Varaico: Literature-Extracted Genetic Variants

Gene:DYRK1A
Variant:p.Q69_V70Splc
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DYRK1A

NM_001396.5:p.Q69_V70Splc

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

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

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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."