Varaico: Literature-Extracted Genetic Variants

Gene:COL6A3
Variant:p.R1301W
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COL6A3

NM_004369.4:p.R1301W

Associated Papers

Utilization of Targeted RNA-Seq for the Resolution of Variant Pathogenicity and Enhancement of Diagnostic Yield in Dysferlinopathy.

Rufibach L et al.

Journal of Personalized Medicine, 2023

36983702 (PubMed )
Supplement: jpm-13-00520-s001.zip › Supplementary_tables_S1-S4.xlsx › Table_S3_-_Clinical_data

RNA-SSNV: A Reliable Somatic Single Nucleotide Variant Identification Framework for Bulk RNA-Seq Data.

Long Q et al.

Frontiers in Genetics, 2022

35846154 (PubMed )
Supplement: Table9.XLSX › LUSC

Integrated analysis of germline and somatic variants in ovarian cancer.

Kanchi KL et al.

Nature Communications, 2014

24448499 (PubMed )
Supplement: NIHMS551112-supplement-7.xlsx › S_Data_6
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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."