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
Q30387303-5146EF74-5B88-4841-8A40-D53C46E4D9A6
Q30387303-5146EF74-5B88-4841-8A40-D53C46E4D9A6
BestRank
Statement
http://www.wikidata.org/entity/statement/Q30387303-5146EF74-5B88-4841-8A40-D53C46E4D9A6
The PHF6 Mutation c.1A>G; pM1V Causes Börjeson-Forsman-Lehmann Syndrome in a Family with Four Affected Young Boys.
P2860
Q30387303-5146EF74-5B88-4841-8A40-D53C46E4D9A6
BestRank
Statement
http://www.wikidata.org/entity/statement/Q30387303-5146EF74-5B88-4841-8A40-D53C46E4D9A6
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
c23eef502433987e5c249c46202f20afccfa6dc3
P2860
1024C> T (R342X) is a recurrent PHF6 mutation also found in the original Börjeson-Forssman-Lehmann syndrome family.