Associated Papers
Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project data.
Cipriani V et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Paralogue annotation identifies novel pathogenic variants in patients with Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia.
Walsh R et al.
Journal of Medical Genetics, 2014
Genotype-phenotype correlations in recessive RYR1-related myopathies.
Amburgey K et al.
Orphanet Journal of Rare Diseases, 2013
23919265 (PubMed )
Supplement: 1750-1172-8-117-S1.xlsx › AR_Cases_in_Literature
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