Tuz et al., 2014 - Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy. American journal of human genetics   94(1):62-72 Full text @ Am. J. Hum. Genet.
Human Disease / Model Data (2 Records)
Human Disease Fish Environment Evidence Code
asphyxiating thoracic dystrophy
Joubert syndrome
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