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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DYRK1A

Variant:p.K416fs

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DYRK1A

NM_101395.2:p.K416fs

hg38:chr21:37505289 AAA>N

Associated Papers

Ocular Phenotype Associated with DYRK1A Variants.

Méjécase C et al.

Genes, 2021

33562844 (PubMed )

Clinical phenotype of ASD-associated DYRK1A haploinsufficiency.

Earl RK et al.

Molecular Autism, 2017

29034068 (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."