Varaico: Literature-Extracted Genetic Variants

Gene:TOP1
Variant:p.R546Q
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TOP1

NM_003286.4:p.R546Q

Associated Papers

Transcriptional repression by a secondary DNA binding surface of DNA topoisomerase I safeguards against hypertranscription.

Lau MS et al.

Nature Communications, 2023

Germline mutations and developmental mosaicism underlying EGFR-mutant lung cancer.

Burr R et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

37808694 (PubMed )
Supplement: media-2.xlsx › Patient_9

Patterns and rates of exonic de novo mutations in autism spectrum disorders.

Neale BM et al.

Nature, 2012

22495311 (PubMed )
Supplement: NIHMS361899-supplement-2.xls › De_Novo_Mutations
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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."