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Common Pitfalls and Novel Opportunities for Predicting Variant Pathogenicity
The prediction of missense variant pathogenicity is normally performed using analyses of multiple sequence alignments optionally augmented with analyses of the (predicted) protein structure. The most straightforward way, though, is to search the literature to see whether this variant has already been described. Variant data from homologous proteins... Read More»
Tom van den Bergh, Bas Vroling, Remko KP Kuipers, Henk-Jan Joosten and Gert Vriend
Research Article: Biochem Physiol 5: 197
DOI:
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