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List of works by Gerard C P Schaafsma

Human Variome Project Quality Assessment Criteria for Variation Databases.

scientific article

Large differences in proportions of harmful and benign amino acid substitutions between proteins and diseases

scientific article published on 30 May 2017

Large differences in proportions of harmful and benign amino acid substitutions between proteins and diseases.

scientific article

Representativeness of variation benchmark datasets

scientific article published on 29 November 2018

Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database.

scientific article published on 31 January 2012

VariOtator, a Software Tool for Variation Annotation with the Variation Ontology.

scientific article published on 15 January 2016

VariSNP, a benchmark database for variations from dbSNP.

scientific article

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