Varaico: Literature-Extracted Genetic Variants

Gene:ECT2L
Variant:p.K676fs
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ECT2L

NM_001077706.3:p.K676fs

Associated Papers

Waardenburg syndrome type 2 with a de novo variant of the SOX10 gene: a case report.

Li Y et al.

Bmc Medical Genomics, 2024

38659011 (PubMed )
Supplement: 12920_2024_1877_MOESM2_ESM.xlsx › H12056928648

Dissecting Mechanisms of Melanoma Resistance to BRAF and MEK Inhibitors Revealed Genetic and Non-Genetic Patient- and Drug-Specific Alterations and Remarkable Phenotypic Plasticity.

Hartman ML et al.

Cells, 2020

31936151 (PubMed )
Supplement: cells-09-00142-s001.pdf

Identification of germline and somatic mutations in pancreatic adenosquamous carcinoma using whole exome sequencing.

Ma H et al.

Cancer Biomarkers : Section a of Disease Markers, 2020

31958074 (PubMed )
Supplement: sj-xlsx-1-cbm-10.3233_cbm-190236.xlsx › Germline
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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."