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Mutalyzer 2: next generation HGVS nomenclature checker
Synonymous Somatic Variants in Human Cancer Are Not Infamous: A Plea for Full Disclosure in Databases and Publications
Recommended Guidelines for Validation, Quality Control, and Reporting of TP53 Variants in Clinical Practice
HGVS Recommendations for the Description of Sequence Variants: 2016 Update
A germline chromothripsis event stably segregating in 11 individuals through three generations
An efficient algorithm for the extraction of HGVS variant descriptions from sequences
An efficient algorithm for the extraction of HGVS variant descriptions from sequences
Preserving sequence annotations across reference sequences
VarioML framework for comprehensive variation data representation and exchange
In search of triallelism in Bardet-Biedl syndrome
Curating Gene Variant Databases (LSDBs): Toward a Universal Standard
A formalized description of the standard human variant nomenclature in Extended Backus-Naur Form
Describing Structural Changes by Extending HGVS Sequence Variation Nomenclature
LOVD v.2.0: The Next Generation in Gene Variant Databases
Locus Reference Genomic sequences: an improved basis for describing human DNA variants
Locus Reference Genomic sequences: an improved basis for describing human DNA variants