awgldk
/
wikidata
/
Login
Register
TriplyDB
Wikidata
Browser
Table
SPARQL
Graphs
1
1
Services
1
1
Assets
0
0
Insights
Schema
BETA
Class frequency
Class hierarchy
Q57484322-526F654F-0F70-4F38-9F01-C5D4E955DEEC
Q57484322-526F654F-0F70-4F38-9F01-C5D4E955DEEC
BestRank
Statement
http://www.wikidata.org/entity/statement/Q57484322-526F654F-0F70-4F38-9F01-C5D4E955DEEC
Homozygous mutation in the Neurofascin gene affecting the glial isoform of Neurofascin causes severe neurodevelopment disorder with hypotonia, amimia and areflexia
P2860
Q57484322-526F654F-0F70-4F38-9F01-C5D4E955DEEC
BestRank
Statement
http://www.wikidata.org/entity/statement/Q57484322-526F654F-0F70-4F38-9F01-C5D4E955DEEC
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
cddc5db81dd1747d2d348fa8b14e619569132815
P2860
BCFtools/RoH: a hidden Markov model approach for detecting autozygosity from next-generation sequencing data.