Whole-genome Sequencing of Two Probands with Hereditary Spastic Paraplegia Reveals Novel Splice-donor Region Variant and Known Pathogenic Variant in SPG11
Publication in refereed journal

Other information
All Author(s) ListYU Chi Shing, CHAN Yin Yan Anne, AU Wing Chi Lisa, SHEN Yun, CHAN Ting Fung Philos, CHAN Ho Yin Edwin
Journal nameMolecular Case Studies
PublisherCold Spring Harbour Laboratory
LanguagesEnglish-United Kingdom
Keywordshereditary spastic paraplegias; clinical sequencing

Last updated on 2018-22-01 at 12:52