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Publication : Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects.

First Author  De Mori R Year  2017
Journal  Am J Hum Genet Volume  101
Issue  4 Pages  552-563
PubMed ID  28965847 Mgi Id 
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