Associated Papers
Assessing the clinical utility of protein structural analysis in genomic variant classification: experiences from a diagnostic laboratory.
Caswell RC et al.
Genome Medicine, 2022
35869530 (PubMed )
Supplement: 13073_2022_1082_MOESM1_ESM.xlsx › Additional_file_1
PIGG variant pathogenicity assessment reveals characteristic features within 19 families.
Tremblay-Laganière C et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
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