Varaico: Literature-Extracted Genetic Variants

Gene:THSD1
Variant:p.R224G
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THSD1

NM_018676.4:p.R224G

Associated Papers

Spontaneous coronary artery dissection with leucoencephalopathy associated with thrombospondin Type 1 domain containing 1 gene mutation: a case report.

Ranasinghe G et al.

European Heart Journal. Case Reports, 2023

Rare Tumor-Normal Matched Whole Exome Sequencing Identifies Novel Genomic Pathogenic Germline and Somatic Aberrations.

Sprissler R et al.

Cancers, 2020

32570879 (PubMed )
Supplement: cancers-12-01618-s001.zip › cancers-817200-Supplementary_Materials3 › Supplementary_table_S1.xlsx › TSG

SNP-based large-scale identification of allele-specific gene expression in human B cells.

Song MY et al.

Gene, 2012

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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."