List of works by Marta Verby

A framework for exhaustively mapping functional missense variants.

scientific article published on 21 December 2017

A proactive genotype-to-patient-phenotype map for cystathionine beta-synthase

scientific article published on 30 January 2020

A web application and service for imputing and visualizing missense variant effect maps

scientific article published on 01 September 2019

ATP7B variant c.1934T > G p.Met645Arg causes Wilson disease by promoting exon 6 skipping

scientific article published on 08 April 2020

Assessing predictions on fitness effects of missense variants in calmodulin

scientific article published on 03 September 2019

Expanding the Atlas of Functional Missense Variation for Human Genes

article

Mapping DNA damage-dependent genetic interactions in yeast via party mating and barcode fusion genetics.

scientific article

Multiplexed measurement of variant abundance and activity reveals VKOR topology, active site and human variant impact

scientific article published on 11 May 2020

Multiplexed measurement of variant abundance and activity reveals VKOR topology, active site and human variant impact

scientific article published on 01 September 2020

Pooled-matrix protein interaction screens using Barcode Fusion Genetics

scientific journal article

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