Varaico: Literature-Extracted Genetic Variants

Gene:JARID2
Variant:p.R827Q
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JARID2

NM_004973.4:p.R827Q

Associated Papers

JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome.

Verberne EA et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

De novo mutations in folate-related genes associated with common developmental disorders.

Luo T et al.

Computational and Structural Biotechnology Journal, 2021

33777337 (PubMed )
Supplement: mmc6.xlsx › Sheet1

Genome-wide characteristics of de novo mutations in autism.

Yuen RK et al.

Npj Genomic Medicine, 2016

27525107 (PubMed )
Supplement: npjgenmed201627-s3.xlsx › Table_S10
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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."