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Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disorders.
Ek M et al.
Frontiers in Neurology, 2023
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Clinical Forms and GRIN2A Genotype of Severe End of Epileptic-Aphasia Spectrum Disorder.
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Exome sequencing in 51 early onset non-familial CRC cases.
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Molecular Genetics & Genomic Medicine, 2019
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