Varaico: Literature-Extracted Genetic Variants

Gene:DYRK1A
Variant:p.H467Y
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DYRK1A

NM_001347721.2:p.H467Y

Associated Papers

DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract.

Blackburn ATM et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

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

DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.

Ji J et al.

European Journal of Human Genetics : Ejhg, 2015

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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."