Varaico: Literature-Extracted Genetic Variants

Gene:SCNN1D
Variant:p.R273H
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SCNN1D

NM_001130413.4:p.R273H

Associated Papers

Comparative analysis of whole-genome sequencing of tumor and cfDNA in a neuroblastoma patient: a case report.

Fransson S et al.

Frontiers in Oncology, 2025

40386554 (PubMed )
Supplement: Table1.xlsx › SNV

TERT promoter hotspot mutations and gene amplification in metaplastic breast cancer.

da Silva EM et al.

Npj Breast Cancer, 2021

33863915 (PubMed )
Supplement: 41523_2021_250_MOESM1_ESM.pdf
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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."