awgldk
/
wikidata
/
Login
Register
TriplyDB
Wikidata
Browser
Triples
Insights
Schema
BETA
Class frequency
Class hierarchy
SPARQL
Graphs
1
Q38813517-3A677E53-4DE0-4BFE-B7D3-6D5137B7995F
Q38813517-3A677E53-4DE0-4BFE-B7D3-6D5137B7995F
BestRank
Statement
http://www.wikidata.org/entity/statement/Q38813517-3A677E53-4DE0-4BFE-B7D3-6D5137B7995F
The exome sequencing identified the mutation in YARS2 encoding the mitochondrial tyrosyl-tRNA synthetase as a nuclear modifier for the phenotypic manifestation of Leber's hereditary optic neuropathy-associated mitochondrial DNA mutation.
P2860
Q38813517-3A677E53-4DE0-4BFE-B7D3-6D5137B7995F
BestRank
Statement
http://www.wikidata.org/entity/statement/Q38813517-3A677E53-4DE0-4BFE-B7D3-6D5137B7995F
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
ff9f721d209306f8ca38b67c682f7dc92cef4abe
P2860
Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations