elhamkhani
/
Test2
/
Login
Register
TriplyDB
Test2
Browser
Triples
Insights
Schema
BETA
Class frequency
Class hierarchy
SPARQL
GraphQL
BETA
Graphs
1
Q37235193-417C64E5-F7A7-48EE-8F65-CA2EE8432D42
Q37235193-417C64E5-F7A7-48EE-8F65-CA2EE8432D42
BestRank
Statement
http://www.wikidata.org/entity/statement/Q37235193-417C64E5-F7A7-48EE-8F65-CA2EE8432D42
Homozygous deletion of DIS3L2 exon 9 due to non-allelic homologous recombination between LINE-1s in a Japanese patient with Perlman syndrome.
P2860
Q37235193-417C64E5-F7A7-48EE-8F65-CA2EE8432D42
BestRank
Statement
http://www.wikidata.org/entity/statement/Q37235193-417C64E5-F7A7-48EE-8F65-CA2EE8432D42
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
f97d7e196fc14d4a2a303eb6aa042d958d444139
P2860
A homozygous nonsense mutation in SOX9 in the dominant disorder campomelic dysplasia: a case of mitotic gene conversion.