P514: High-resolution analysis of pathogenic trinucleotide and hexanucleotide repeats, copy number changes, SNVs and INDELs using flexible, easy-to-use fragment sizing instrumentation

Autor: Lara, Adrian, Partin, Steven, Parker, Connor, Hedges, John, Milligan, John
Zdroj: In Genetics in Medicine Open 2023 1(1) Supplement
Databáze: ScienceDirect