Associated Papers
Major Causes of Conflicting Interpretations of Variant Pathogenicity in Rare Disease: A Systematic Analysis.
Lazareva TE et al.
Journal of Personalized Medicine, 2024
39202055 (PubMed )
Supplement: jpm-14-00864-s001.zip › jpm-3099412-supplementary › Supplementary_Table_S1.xlsx › SNP
Alleviating misclassified germline variants in underrepresented populations: A strategy using popmax.
Lee NY et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024
Novel Loss-of-Function Mutations in NPR2 Cause Acromesomelic Dysplasia, Maroteaux Type.
Wu J et al.
Frontiers in Genetics, 2022
35368703 (PubMed )
Supplement: DataSheet2.docx
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