Associated Papers
Functional categorization of gene regulatory variants that cause Mendelian conditions.
Cheng YHH et al.
Human Genetics, 2024
The Biological Significance of Multi-copy Regions and Their Impact on Variant Discovery.
Sun J et al.
Genomics, Proteomics & Bioinformatics, 2020
32827758 (PubMed )
Supplement: mmc12.xlsx › Supplementary_table_6
A Rapid, Affordable and Feasible Method for Detection of the HBG1: g.-225_-222delAGCA Polymorphism.
Musso M et al.
Hemoglobin, 2018
Detection of germline rearrangements in patients with α- and β-thalassemia using high resolution array CGH.
Blattner A et al.
Blood Cells, Molecules & Diseases, 2013
Select a paper to view details