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Article

Translating genetic and functional data into clinical practice: a series of 223 families with myotonia.

Brain : a journal of neurology - 18 Apr 2022

Suetterlin Karen, Matthews Emma, Sud Richa, McCall Samuel, Fialho Doreen, Burge James, Jayaseelan Dipa, Haworth Andrea, Sweeney Mary G, Kullmann Dimitri M, Schorge Stephanie, Hanna Michael G, Männikkö Roope

Abstract excerpt

High-throughput DNA sequencing is increasingly employed to diagnose single gene neurological and neuromuscular disorders. Large volumes of data present new challenges in data interpretation and its useful translation into clinical and genetic counselling for families. Even when a plausible gene is identified with confidence, interpretation of the clinical significance and inheritance pattern of variants can be...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 34529042
DOI: 10.1093/brain/awab344
PMCID: PMC9014745

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