Associated Papers
Diagnostic yield of 1000 trio analyses with exome and genome sequencing in a clinical setting.
Malmgren H et al.
Frontiers in Genetics, 2025
40620702 (PubMed )
Supplement: Supplementaryfile1.XLSX › Blad1
ALPK3 gene mutation in a patient with congenital cardiomyopathy and dysmorphic features.
Çağlayan AO et al.
Cold Spring Harbor Molecular Case Studies, 2017
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