Varaico: Literature-Extracted Genetic Variants

Gene:SUFU
Variant:p.R280Q
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SUFU

NM_016169.4:p.R280Q

Associated Papers

Clinical and genetic spectrum of 355 Chinese children with epilepsy: a trio-sequencing-based study.

Duan J et al.

Brain : a Journal of Neurology, 2022

35231114 (PubMed )
Supplement: awac053_supplementary_data.zip › brain-2021-02368-File005.pdf

Genomes for Kids: The Scope of Pathogenic Mutations in Pediatric Cancer Revealed by Comprehensive DNA and RNA Sequencing.

Newman S et al.

Cancer Discovery, 2021

34301788 (PubMed )
Supplement: cd-20-1631_supplementary_tables_suppst1.xlsx › S9._Germline_VUS

Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

Pritchard AL et al.

Plos One, 2018

29641532 (PubMed )
Supplement: pone.0194098.s003.xlsx › UK10K_AD
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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."