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686P Identification and characterization of actionable deep intron 8 IGHMBP2 hotspot pathogenic variants through motor neuron RNAseq and whole genome.

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Title: 686P Identification and characterization of actionable deep intron 8 IGHMBP2 hotspot pathogenic variants through motor neuron RNAseq and whole genome.
Authors: Silverstein, S.1,2,3 (AUTHOR), Donkervoort, S.1 (AUTHOR), Cassini, T.4 (AUTHOR), Vetrini, F.5,6 (AUTHOR), Conboy, E.5,6 (AUTHOR), Comer, A.7 (AUTHOR), Treat, K.5,6 (AUTHOR), Liaqat, K.5,6 (AUTHOR), Mantcheva, L.5,6 (AUTHOR), Patankar, A.8 (AUTHOR), Bharucha-Goebel, D.1,9 (AUTHOR), Foley, A.1 (AUTHOR), Chao, K.10 (AUTHOR), Neuhaus, S.1 (AUTHOR), Grunseich, C.8 (AUTHOR), Bonnemann, C.1 (AUTHOR)
Source: Neuromuscular Disorders. 2024 Supplement 1, Vol. 43, pN.PAG-N.PAG. 1p.
Database: Academic Search Ultimate
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An: 180115164
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PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
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  Data: <searchLink fieldCode="JN" term="%22Neuromuscular+Disorders%22">Neuromuscular Disorders</searchLink>. 2024 Supplement 1, Vol. 43, pN.PAG-N.PAG. 1p.
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=180115164
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        Value: 10.1016/j.nmd.2024.07.396
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              Text: 2024 Supplement 1
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