CASE REPORT
|
doi:10.20944/preprints202305.2038.v1
Subject:
Biology And Life Sciences,
Biochemistry And Molecular Biology
Keywords:
Familial hypercholesterolemia; Next Generation Sequencing; LDL-cholesterol; LDLR gene; Copy number variations (CNVs); Alu sequences
Online: 30 May 2023 (04:25:02 CEST)
CASE REPORT
|
doi:10.20944/preprints202012.0548.v1
Subject:
Medicine And Pharmacology,
Immunology And Allergy
Keywords:
next-generation sequencing; hereditary breast cancer; Homologous Recombination Repair; hereditary cancer syndrome; Clinical genomics; Molecular diagnostics
Online: 22 December 2020 (10:17:48 CET)