awgldk
/
wikidata
/
Login
Register
TriplyDB
Wikidata
Browser
Triples
Insights
Schema
BETA
Class frequency
Class hierarchy
SPARQL
Graphs
1
Q47356323-F9F9262D-94EE-4AF2-9510-811FB02F7A6F
Q47356323-F9F9262D-94EE-4AF2-9510-811FB02F7A6F
BestRank
Statement
http://www.wikidata.org/entity/statement/Q47356323-F9F9262D-94EE-4AF2-9510-811FB02F7A6F
Heterozygous SSBP1 start loss mutation co-segregates with hearing loss and the m.1555A>G mtDNA variant in a large multigenerational family.
P2860
Q47356323-F9F9262D-94EE-4AF2-9510-811FB02F7A6F
BestRank
Statement
http://www.wikidata.org/entity/statement/Q47356323-F9F9262D-94EE-4AF2-9510-811FB02F7A6F
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
8387219c5e46e65ce395e9c5be8a4b0e7cea23c9
P2860
Biochemical Evidence for a Nuclear Modifier Allele (A10S) in TRMU (Methylaminomethyl-2-thiouridylate-methyltransferase) Related to Mitochondrial tRNA Modification in the Phenotypic Manifestation of Deafness-associated 12S rRNA Mutation.