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inborn errors of metabolism clinical domain working  (ClinGen Resource)

 
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    ClinGen Resource inborn errors of metabolism clinical domain working
    Inborn Errors Of Metabolism Clinical Domain Working, supplied by ClinGen Resource, used in various techniques. Bioz Stars score: 90/100, based on 1 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
    https://www.bioz.com/product/inborn+errors+of+metabolism+working/inborn+errors+of+metabolism+clinical+domain+working/pm39426251-237-5-5
    Average 90 stars, based on 1 article reviews
    inborn errors of metabolism clinical domain working - by Bioz Stars, 2026-09
    90/100 stars

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    Related Articles

    Variant Assay:

    Article Title: Unique Aspects of Sequence Variant Interpretation for Inborn Errors of Metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene
    Article Snippet: The ClinGen Inborn Errors of Metabolism Working Group was tasked with creating a comprehensive, standardized knowledge base of genes and variants for metabolic diseases.

    Article Title: Abstracts
    Article Snippet: DOIs of original article: https://doi.org/10.1016/j.ymgme.2019.04.010, https://doi.org/10.1016/j.ymgme.2019.01.025. https://doi.org/10.1016/j.ymgme.2019.04.011 1096-7192/© 2019 Published by Elsevier Inc. Molecular Genetics andMetabolism 127 (2019) 219–320 Program for the 2019 SIMD Annual Meeting

    Biomarker Discovery:

    Article Title: Unique Aspects of Sequence Variant Interpretation for Inborn Errors of Metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene
    Article Snippet: The ClinGen Inborn Errors of Metabolism Working Group was tasked with creating a comprehensive, standardized knowledge base of genes and variants for metabolic diseases.

    Article Title: Abstracts
    Article Snippet: DOIs of original article: https://doi.org/10.1016/j.ymgme.2019.04.010, https://doi.org/10.1016/j.ymgme.2019.01.025. https://doi.org/10.1016/j.ymgme.2019.04.011 1096-7192/© 2019 Published by Elsevier Inc. Molecular Genetics andMetabolism 127 (2019) 219–320 Program for the 2019 SIMD Annual Meeting

    Clinical Proteomics:

    Article Title: Unique Aspects of Sequence Variant Interpretation for Inborn Errors of Metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene
    Article Snippet: The ClinGen Inborn Errors of Metabolism Working Group was tasked with creating a comprehensive, standardized knowledge base of genes and variants for metabolic diseases.

    Article Title: Abstracts
    Article Snippet: DOIs of original article: https://doi.org/10.1016/j.ymgme.2019.04.010, https://doi.org/10.1016/j.ymgme.2019.01.025. https://doi.org/10.1016/j.ymgme.2019.04.011 1096-7192/© 2019 Published by Elsevier Inc. Molecular Genetics andMetabolism 127 (2019) 219–320 Program for the 2019 SIMD Annual Meeting



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