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
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.
Pejaver V et al.
American Journal of Human Genetics, 2022
36413997 (PubMed )
Supplement: mmc4.xlsx › clinvar_20201219
A Unique Observation of a Patient with Vulto-van Silfhout-de Vries Syndrome.
Bodunova N et al.
Diagnostics (basel, Switzerland), 2022
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