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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DYRK1A

Variant:p.L100*

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DYRK1A

NM_001396.5:p.L100*

hg38:chr21:37478272 T>A

Associated Papers

Novel splicing variant and gonadal mosaicism in DYRK1A gene identified by whole-genome sequencing in multiplex autism spectrum disorder families.

Agha Gholizadeh M et al.

Neurogenetics, 2024

38976082 (PubMed )

Ocular Phenotype Associated with DYRK1A Variants.

Méjécase C et al.

Genes, 2021

33562844 (PubMed )

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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."