A comprehensive global genotype-phenotype database for rare diseases
Author:
Affiliation:
1. Centogene AG; Rostock Germany
2. Institute of Human Genetics; University of Leipzig Hospitals and Clinics; Leipzig Germany
3. Albrecht-Kossel-Institute for Neuroregeneration; Medical University Rostock; Rostock Germany
Funder
Centogene AG
Publisher
Wiley
Subject
Genetics(clinical),Genetics,Molecular Biology
Reference22 articles.
1. An integrated map of genetic variation from 1,092 human genomes;Abecasis;Nature,2012
2. Analysis of DNA sequence variants detected by high-throughput sequencing;Adams;Hum. Mutat.,2012
3. OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders;Amberger;Nucleic Acids Res.,2015
4. The fusion of two peptide chains in hemoglobin Lepore and its interpretation as a genetic deletion;Baglioni;Proc. Natl Acad. Sci. USA,1962
5. Genetic heterogeneity of the GLDC gene in 28 unrelated patients with glycine encephalopathy;Conter;J. Inherit. Metab. Dis.,2006
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