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Anoctamin-5 related muscle disease : clinical and genetic findings in a large European cohort
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- Journal Article
- A1
- open access
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing
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- Journal Article
- A1
- open access
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing
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Interpreting genetic variants in titin in patients with muscle disorders
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Targeted next-generation sequencing reveals novel TTN mutations causing recessive distal titinopathy
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The genetic basis of undiagnosed muscular dystrophies and myopathies: results from 504 patients