Varaico: Literature-Extracted Genetic Variants

Gene:DYRK1A
Variant:p.L267F
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DYRK1A

NM_001347721.2:p.L267F

Associated Papers

Clinical phenotype of ASD-associated DYRK1A haploinsufficiency.

Earl RK et al.

Molecular Autism, 2017

29034068 (PubMed )
Supplement: 13229_2017_173_MOESM1_ESM.xlsx › NM101395.2_snvs_indels

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."