CORE
🇺🇦Â
 make metadata, not war
Services
Services overview
Explore all CORE services
Access to raw data
API
Dataset
FastSync
Content discovery
Recommender
Discovery
OAI identifiers
OAI Resolver
Managing content
Dashboard
Bespoke contracts
Consultancy services
Support us
Support us
Membership
Sponsorship
Community governance
Advisory Board
Board of supporters
Research network
About
About us
Our mission
Team
Blog
FAQs
Contact us
Filters
1 research outputs found
Novel splice-site variant of UCHL1 in an Indian family with autosomal recessive spastic paraplegia-79
Author
A Bhowmik Das
Aneek Das Bhowmik
+18Â more
Ashwin Dalal
DA Butterfield
Dipti Vijayrao Deshpande
F Chen
FO Desmet
H Osaka
JF Doran
JM Schwarz
K Bilguvar
KD Wilkinson
M Kircher
M Ragland
M Zhang
Siddaramappa J. Patil
SL Rydning
Venkatraman Bhat
Y Liu
Y Liu
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref