Varaico: Literature-Extracted Genetic Variants

Gene:DYRK1A
Variant:p.A489fs
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DYRK1A

NM_001347721.2:p.A489fs

Associated Papers

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

Impaired development of neocortical circuits contributes to the neurological alterations in DYRK1A haploinsufficiency syndrome.

Arranz J et al.

Neurobiology of Disease, 2019

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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."