Associated Papers
Investigation of Genetic Causes in Patients with Congenital Heart Disease in Qatar: Findings from the Sidra Cardiac Registry.
Okashah S et al.
Genes, 2022
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
30937429 (PubMed )
Supplement: famiglietti_supplementarytables1_rev_baz040.xlsx › common
Whole exome sequencing in a patient with uniparental disomy of chromosome 2 and a complex phenotype.
Carmichael H et al.
Clinical Genetics, 2013
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