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Select article: An Extended Targeted Copy Number Variation Detection Array Including 187 Genes for the Diagnostics of Neuromuscular Disorders

Open access

Research article

First published 2018

An Extended Targeted Copy Number Variation Detection Array Including 187 Genes for the Diagnostics of Neuromuscular Disorders

Lydia Sagath, Vilma-Lotta Lehtokari, Salla Välipakka [...]

Journal of Neuromuscular Diseases

Select article: Novel Compound Heterozygous Splice-Site Variants in TPM3 Revealed by RNA Sequencing in a Patient with an Unusual Form of Nemaline Myopathy: A Case Report

Open access

Research article

First published 2023-09-08

Novel Compound Heterozygous Splice-Site Variants in TPM3 Revealed by RNA Sequencing in a Patient with an Unusual Form of Nemaline Myopathy: A Case Report

Katarina Pelin, Lydia Sagath, Johanna Lehtonen [...]

Journal of Neuromuscular Diseases

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