Associated Papers
Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.
Zhang X et al.
Bmc Neurology, 2018
30497413 (PubMed )
Supplement: 12883_2018_1199_MOESM5_ESM.xlsx › Supplementary_Table_5_The_index
Novel autosomal dominant TNNT1 mutation causing nemaline myopathy.
Konersman CG et al.
Molecular Genetics & Genomic Medicine, 2017
Recurrent Episodes of Rhabdomyolysis after Seizures in a Patient with Glycogen Storage Disease Type V.
Park HJ et al.
Journal of Clinical Neurology (seoul, Korea), 2016
27273923 (PubMed )
Supplement: jcn-12-373-s003.pdf
Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins.
Carmi S et al.
Nature Communications, 2014
25203624 (PubMed )
Supplement: ncomms5835-s5.xlsx › List_of_all_discovered_variants
Select a paper to view details