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
Q40398012-E2856309-B565-4401-A770-82F868E9CD6E
Q40398012-E2856309-B565-4401-A770-82F868E9CD6E
BestRank
Statement
http://www.wikidata.org/entity/statement/Q40398012-E2856309-B565-4401-A770-82F868E9CD6E
Compound heterozygous NEK1 variants in two siblings with oral-facial-digital syndrome type II (Mohr syndrome).
P2860
Q40398012-E2856309-B565-4401-A770-82F868E9CD6E
BestRank
Statement
http://www.wikidata.org/entity/statement/Q40398012-E2856309-B565-4401-A770-82F868E9CD6E
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
e4b883f99f5f90669697ba0e0d45639c0405f868
P2860
Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome.