Associated Papers
Improving the efficacy of exome sequencing at a quaternary care referral centre: novel mutations, clinical presentations and diagnostic challenges in rare neurogenetic diseases.
Grunseich C et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2021
34103343 (PubMed )
Supplement: jnnp-2020-325437supp002.pdf
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