Varaico: Literature-Extracted Genetic Variants

Gene:COL5A3
Variant:p.R245W
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COL5A3

NM_015719.4:p.R245W

Associated Papers

Integrated Whole-Exome and Transcriptome Sequencing Indicated Dysregulation of Cholesterol Metabolism in Eyelid Sebaceous Gland Carcinoma.

Wang Y et al.

Translational Vision Science & Technology, 2023

36735267 (PubMed )
Supplement: tvst-12-2-4_s001.xls › S1-SNVs

Divergent Roles of PI3K Isoforms in PTEN-Deficient Glioblastomas.

Xie S et al.

Cell Reports, 2020

32997991 (PubMed )
Supplement: NIHMS1633676-supplement-2.xlsx › BT224_Mutations

Type II enteropathy-associated T-cell lymphoma features a unique genomic profile with highly recurrent SETD2 alterations.

Roberti A et al.

Nature Communications, 2016

27600764 (PubMed )
Supplement: ncomms12602-s2.xlsx › Supplementary_Data_2
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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."