Varaico: Literature-Extracted Genetic Variants

Gene:DYRK1A
Variant:p.E207_M208Fs
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DYRK1A

NM_001347721.2:p.E207_M208Fs

Associated Papers

A De Novo Mutation in DYRK1A Causes Syndromic Intellectual Disability: A Chinese Case Report.

Qiao F et al.

Frontiers in Genetics, 2019

31803247 (PubMed )
Supplement: DataSheet_2.pdf

Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID.

van Bon BW et al.

Molecular Psychiatry, 2016

VaRank: a simple and powerful tool for ranking genetic variants.

Geoffroy V et al.

Peerj, 2015

Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.

Redin C et al.

Journal of Medical Genetics, 2014

25167861 (PubMed )
Supplement: jmedgenet-2014-102554-s1.pdf
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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."