Varaico: Literature-Extracted Genetic Variants

Gene:DYRK1A
Variant:p.S97delFs
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DYRK1A

NM_001396.5:p.S97delFs

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

Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID.

van Bon BW et al.

Molecular Psychiatry, 2016

DYRK1A mutations in two unrelated patients.

Ruaud L et al.

European Journal of Medical Genetics, 2015

The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy.

Courcet JB et al.

Journal of Medical Genetics, 2012

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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."