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cmt multigene panel  (Invitae Inc)

 
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    Invitae Inc cmt multigene panel
    Cmt Multigene Panel, supplied by Invitae Inc, used in various techniques. Bioz Stars score: 86/100, based on 1 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
    https://www.bioz.com/product/hereditary+cancer+solution+hcs+ce+ivd+multigene+panel/charcot+marie+multigene+panel+tooth/pmc12926717-105-9-15
    Average 86 stars, based on 1 article reviews
    cmt multigene panel - by Bioz Stars, 2026-09
    86/100 stars

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    Related Articles

    DNA Sequencing:

    Article Title: Inhibition of the integrated stress response rescues a histidyl-tRNA synthetase variant associated with Charcot-Marie-Tooth disease
    Article Snippet: .. MATERIALS AND METHODS DNA Sequencing The proband was tested at Invitae using the Charcot-Marie-Tooth multigene panel of 57 genes (Invitae, 2023), with further testing through the Invitae comprehensive neuropathies panel of 102 genes. ..

    Variant Assay:

    Article Title: Inhibition of the integrated stress response rescues a histidyl-tRNA synthetase variant associated with Charcot-Marie-Tooth disease
    Article Snippet: .. The proband was tested on a Charcot-Marie-Tooth multigene panel of 57 genes (Invitae, 2023) and was found to be heterozygous for a missense variant in the HARS1 gene, consisting of a c.1200G>T (pLeu400Phe) substitution (NM_002109.5). .. Further testing through the Invitae comprehensive neuropathies panel of 102 genes revealed the same HARS1 variant with no other sequence variants.

    Article Title: Inhibition of the integrated stress response rescues a histidyl-tRNA synthetase variant associated with Charcot–Marie–Tooth disease
    Article Snippet: .. Laboratory investigations : The proband was tested on a CMT multigene panel of 57 genes (Invitae, 2023) and was found to be heterozygous for a missense variant in the HARS1 gene, consisting of a c.1200G > T (pLeu400Phe) substitution ( NM_002109.5 ). .. Further testing through the Invitae comprehensive neuropathies panel of 102 genes revealed the same HARS1 variant with no other sequence variants.



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