Varaico: Literature-Extracted Genetic Variants

Gene:JARID2
Variant:p.R788Q
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JARID2

NM_004973.4:p.R788Q

Associated Papers

Functional Insight into and Refinement of the Genomic Boundaries of the JARID2-Neurodevelopmental Disorder Episignature.

van der Laan L et al.

International Journal of Molecular Sciences, 2023

37762546 (PubMed )
Supplement: ijms-24-14240-s001.zip › Supplemtary_tables.xlsx › S1_variants

Combining globally search for a regular expression and print matching lines with bibliographic monitoring of genomic database improves diagnosis.

Tran Mau-Them F et al.

Frontiers in Genetics, 2023

DNA Methylation Signature for JARID2-Neurodevelopmental Syndrome.

Verberne EA et al.

International Journal of Molecular Sciences, 2022

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

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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."