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deep intronic variant  (Illumina Inc)


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    Structured Review

    Illumina Inc deep intronic variant
    Examples of diagnoses facilitated by Whole Genome Sequencing (WGS).
    Deep Intronic Variant, supplied by Illumina Inc, 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/deep+intronic+variant/deep+intronic+variant/pmc06523881-16-13-17
    Average 90 stars, based on 1 article reviews
    deep intronic variant - by Bioz Stars, 2026-10
    90/100 stars

    Images

    1) Product Images from "Uncovering Missing Heritability in Rare Diseases"

    Article Title: Uncovering Missing Heritability in Rare Diseases

    Journal: Genes

    doi: 10.3390/genes10040275

    Examples of diagnoses facilitated by Whole Genome Sequencing (WGS).
    Figure Legend Snippet: Examples of diagnoses facilitated by Whole Genome Sequencing (WGS).

    Techniques Used: Sequencing, Variant Assay, Translocation Assay

    Related Articles

    Variant Assay:

    Article Title: Uncovering Missing Heritability in Rare Diseases
    Article Snippet: Lionel et al. 2 , 2018 , GPR143 , Ocular albinism , Deep intronic variant , Illumina , [ ] . .. Lionel et al. 2 , 2018 , OTC , Ornithine transcarbamylase deficiency , Deep intronic variant , Illumina , [ ] . .. Ostrander et al. , 2018 , Multiple , Global developmental delay , Balanced inverted translocation , Illumina , [ ] .



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    Image Search Results


    Examples of diagnoses facilitated by Whole Genome Sequencing (WGS).

    Journal: Genes

    Article Title: Uncovering Missing Heritability in Rare Diseases

    doi: 10.3390/genes10040275

    Figure Lengend Snippet: Examples of diagnoses facilitated by Whole Genome Sequencing (WGS).

    Article Snippet: Lionel et al. 2 , 2018 , OTC , Ornithine transcarbamylase deficiency , Deep intronic variant , Illumina , [ ] .

    Techniques: Sequencing, Variant Assay, Translocation Assay