Varaico: Literature-Extracted Genetic Variants

Gene:EHMT2
Variant:p.R359Q
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EHMT2

NM_006709.5:p.R359Q

Associated Papers

Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.

Stranneheim H et al.

Genome Medicine, 2021

33726816 (PubMed )
Supplement: 13073_2021_855_MOESM3_ESM.xlsx › Reported_genes_and_variants

Whole-genome sequencing of recurrent neuroblastoma reveals somatic mutations that affect key players in cancer progression and telomere maintenance.

Fransson S et al.

Scientific Reports, 2020

33384420 (PubMed )
Supplement: 41598_2020_78370_MOESM2_ESM.xlsx › S3._SNV
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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."