Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Skeletal dysplasia v0.0 | COL12A1 |
Zornitza Stark gene: COL12A1 was added gene: COL12A1 was added to Skeletal dysplasia. Sources: Radboud University Medical Center, Nijmegen Mode of inheritance for gene: COL12A1 was set to Phenotypes for gene: COL12A1 were set to Joint hypermobility syndrome with myopathy (Zou (2014) Hum Mol Genet 23, 2339); Bethlem-like myopathy (Hicks (2014) Hum Mol Genet 23,2353); {Lung cancer, susceptibility to, association with}(Rudd (2006) Genome Res 16,693) |