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Updated: Jun 5, 2025

07:15
Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
10.9K
Using VNtyper from Whole Exome Sequencing Data to Detect Pathogenic Variants in the MUC1 Gene
Hassan Saei1, Cécile Masson2, Vincent Morinière3
1Laboratory of Hereditary Kidney Diseases, Inserm UMR 1163, Imagine Institute, Université Paris Cité, Paris, France.
Journal of the American Society of Nephrology : JASN
|December 9, 2024
Abstract
No abstract available in PubMed .

