Associated Papers
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
34503567 (PubMed )
Supplement: 13073_2021_964_MOESM6_ESM.xlsx › Sheet1
Differential diagnosis of vacuolar myopathies in the NGS era.
Mair D et al.
Brain Pathology (zurich, Switzerland), 2020
Global FKRP Registry: observations in more than 300 patients with Limb Girdle Muscular Dystrophy R9.
Murphy LB et al.
Annals of Clinical and Translational Neurology, 2020
32342672 (PubMed )
Supplement: ACN3-7-757-s001.pdf
Variable cardiac involvement in Tunisian siblings harboring FKRP gene mutations.
Kefi M et al.
Neuropediatrics, 2008
FKRP (826C>A) frequently causes limb-girdle muscular dystrophy in German patients.
Walter MC et al.
Journal of Medical Genetics, 2004
Fukutin-related protein gene mutated in the original kindred limb-girdle MD 2I.
Driss A et al.
Neurology, 2003
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