SLNSW-The Human Gene Mutation Database (HGMD®): optimiz...-TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7497289

The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting

Full title: The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting

Author/creator: Stenson, Peter D., Mort, Matthew, Ball, Edward V., Chapman, Molly, Evans, Katy, Azevedo, Luisa, Hayden, Matthew, Heywood, Sally, Millar, David S., Phillips, Andrew D., Cooper, David N..

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Record Identifier: TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7497289

Language: English

Formats: Articles

Publishers: Berlin/Heidelberg: Springer Berlin Heidelberg

Permalink: https://collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7497289

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    Record title

    The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting

    Record identifier

    TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7497289

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    https://collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7497289

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    The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting

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    https://collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7497289

    The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting

    Full title

    The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting

    Author / Creator

    Stenson, Peter D. ; Mort, Matthew ; Ball, Edward V. ; Chapman, Molly ; Evans, Katy ; Azevedo, Luisa ; Hayden, Matthew ; Heywood, Sally ; Millar, David S. ; Phillips, Andrew D. ; Cooper, David N.

    Publisher

    Berlin/Heidelberg: Springer Berlin Heidelberg

    Journal title

    Human genetics, 2020, Vol.139 (10), p.1197-1207

    Record Identifier

    TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7497289

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    English

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    Articles

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    Biomedical and Life Sciences Biomedicine Diagnostic equipment (Medical) Gene Function Gene mutations Genes Hereditary diseases Human Genetics Medical colleges Metabolic Diseases Molecular Medicine Mutation Point mutation Review

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    TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7497289

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    https://collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7497289

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