Associated Papers
Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes.
Brünger T et al.
Genome Biology, 2025
40624578 (PubMed )
Supplement: 13059_2025_3663_MOESM2_ESM.xlsx › SupplementaryTable1
Targeted transcript analysis in muscles from patients with genetically diverse congenital myopathies.
Bachmann C et al.
Brain Communications, 2022
36196089 (PubMed )
Supplement: fcac224_supplementary_data.docx
Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges.
Schabhüttl M et al.
Journal of Neurology, 2014
Functional and genetic characterization of clinical malignant hyperthermia crises: a multi-centre study.
Klingler W et al.
Orphanet Journal of Rare Diseases, 2014
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