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Paper Details

Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders.
Eur J Hum Genet
51
2013
INPP5E, INPP5E gene, INPP5E mutations, JBTS1 locus, JS, JSRD, Joubert syndrome, Joubert syndrome and related disorders, MKS, Meckel syndrome, ciliopathies, colobomas, midbrain-hindbrain malformation, patients, retinopathy

Datasets

Release 1.2