Related references
Note: Only part of the references are listed.Truncating variants in UBAP1 associated with childhood-onset nonsyndromic hereditary spastic paraplegia
Shen Gu et al.
HUMAN MUTATION (2020)
Stop-gain mutations in UBAP1 cause pure autosomal-dominant spastic paraplegia
Xiang Lin et al.
BRAIN (2019)
UBAP1 mutations cause juvenile-onset hereditary spastic paraplegias (SPG80) and impair UBAP1 targeting to endosomes
Haitian Nan et al.
JOURNAL OF HUMAN GENETICS (2019)
PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels
Antonio Rueda Martin et al.
NATURE GENETICS (2019)
A map of constrained coding regions in the human genome
James M. Havrilla et al.
NATURE GENETICS (2019)
Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia
Mohammad Ali Farazi Fard et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2019)
The 100 000 Genomes Project: bringing whole genome sequencing to the NHS
Clare Turnbull et al.
BMJ-BRITISH MEDICAL JOURNAL (2018)
The 100 000 Genomes Project: bringing whole genome sequencing to the NHS
Clare Turnbull et al.
BMJ-BRITISH MEDICAL JOURNAL (2018)
Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency
William P. Bone et al.
GENETICS IN MEDICINE (2016)
REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants
Nilah M. Ioannidis et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2016)
Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients
Rebecca Schuele et al.
ANNALS OF NEUROLOGY (2016)
Improved exome prioritization of disease genes through cross-species phenotype comparison
Peter N. Robinson et al.
GENOME RESEARCH (2014)
The UBAP1 Subunit of ESCRT-I Interacts with Ubiquitin via a SOUBA Domain
Monica Agromayor et al.
STRUCTURE (2012)
Share Paper
