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Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy number variants.
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Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy number variants.
Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy number variants. Genet Med. 2020 02; 22(2):336-344.
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PubMed
subject areas
Computational Biology
DNA Copy Number Variations
Gene Dosage
Genetic Testing
Genetic Variation
Genome, Human
Genomics
High-Throughput Nucleotide Sequencing
Humans
Laboratories
Mutation
Sequence Analysis, DNA
authors with profiles
Daniela Del Gaudio