P158 Heterozygous SPTAN1 frameshift mutations cause distal myopathy with neurogenic features
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| de Winter, J. | CCSD
International audience.
Spectrinopathies represent an emerging theme with overlapping phenotypes ranging from peripheral or central nervous system involvement towards complex syndromic presentations. A total of 60 d...
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data
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| Sommer, Anna Katharina | CCSD
International audience.
Reanalysis of inconclusive exome/genome sequencing data increases the diagnosis yield of patients with rare diseases. However, the cost and efforts required for reanalysis prevent its routine...
