Varaico: Literature-Extracted Genetic Variants

Gene:CSGALNACT2
Variant:p.L336V
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CSGALNACT2

NM_018590.5:p.L336V

Associated Papers

Multidimensional Molecular Profiling of Metastatic Triple-Negative Breast Cancer and Immune Checkpoint Inhibitor Benefit.

Barroso-Sousa R et al.

Jco Precision Oncology, 2022

35797509 (PubMed )
Supplement: DS.PO.21.00413.xlsx › Supp_Table_S2

Influence of BRCA1 Germline Mutations in the Somatic Mutational Burden of Triple-Negative Breast Cancer.

Ferreira EN et al.

Translational Oncology, 2019

31419696 (PubMed )
Supplement: mmc1.xlsx › Table_S2

Whole-exome sequencing identifies Y1495X of SCN5A to be associated with familial conduction disease and sudden death.

Tan ZP et al.

Scientific Reports, 2014

25010007 (PubMed )
Supplement: srep05616-s2.xls › dominant_result_new
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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."