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
Q47845388-620648C6-B2A1-47DB-8A87-38773FD71D20
Q47845388-620648C6-B2A1-47DB-8A87-38773FD71D20
BestRank
Statement
http://www.wikidata.org/entity/statement/Q47845388-620648C6-B2A1-47DB-8A87-38773FD71D20
Limb girdle muscular dystrophy in a sibling pair with a homozygous Ser606Leu mutation in the alternatively spliced IS2 region of calpain 3.
P2860
Q47845388-620648C6-B2A1-47DB-8A87-38773FD71D20
BestRank
Statement
http://www.wikidata.org/entity/statement/Q47845388-620648C6-B2A1-47DB-8A87-38773FD71D20
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
587bf6a7946b132d16847bf3d8c83d4f386acde2
P2860
Loss of calpain-3 autocatalytic activity in LGMD2A patients with normal protein expression.