Associated Papers
Investigation of a Large Kindred Reveals Cardiac Calsequestrin (CASQ2) as a Cause of Brugada Syndrome.
d'Apolito M et al.
Genes, 2024
39062601 (PubMed )
Supplement: genes-15-00822-s001.zip › genes-3033278-supplementary.pdf
Fatal Cytomegalovirus Infection in an Adult with Inherited NOS2 Deficiency.
Drutman SB et al.
The New England Journal of Medicine, 2020
Whole genome SNP genotyping and exome sequencing reveal novel genetic variants and putative causative genes in congenital hyperinsulinism.
Proverbio MC et al.
Plos One, 2013
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